eQTLs catalog

Version 20190109





The expression Qualitative Traits Loci (eQTLs) are genetic polymorphisms associated with changes in gene expression levels and they have been successfully used to interpret the molecular role of Genome Wide Association Studies (GWAS) variants. Up to date few eQTLs databases exist but they collect only a small portion of the available datasets. We collected several studies and here is the description of the most important features.



Project_ID PubMed_ID Year FinalSource SampleSize(min) SampleSize(mean) SampleSize(max) Population eQTLs Tested genes #eGenes BodyDistrict SampleType SampleSize
Dixon et al., 2007 17873877 2007 Dixon et al., 2007 378 378 378 British 1998 14,819 1433 Blood LCLs 378
Myers et al., 2007 17982457 2007 Myers et al., 2007 193 193 193 EA 210 NA 240 Brain Brain_Cortex 193
Stranger et al., 2007 17873874 2007 Stranger et al., 2007 270 270 270 CEU|YRI|CHB|JPT 1234 NA 640 Blood LCLs 270
Kwan et al., 2008 18193047 2008 Kwan et al., 2008 60 60 60 EA 313 NA 302 Blood LCLs 60
Schadt et al., 2008 18462017 2008 Schadt et al., 2008 427 427 427 Caucasian 3311 NA 2294 Liver Liver 427
Veyrieras et al., 2008 18846210 2008 Pritchard db 210 210 210 Multipop. 1645 NA 1361 Blood LCLs 210
Dimas et al., 2009 19644074 2009 Pritchard db 75 75 75 EUR 1102 NA 971 Blood Fibroblasts|Lymphocytes|T-Cells 75
Grundberg et al., 2009 19654370 2009 Grundberg et al., 2009 95 95 95 Swedish 264 NA 259 Bone Osteoblasts 95
Heap et al., 2009 19128478 2009 Heap et al., 2009 110 155 200 UK 813 NA 778 Blood Leukocytes_Celiac|Leukocytes 110|200
Borel et al., 2010 21147911 2010 Borel et al., 2010 180 180 180 Western_EUR 57 121 (miRNAs) 36 Blood Fibroblasts 180
Ding et al., 2010 21129726 2010 Dinget al., 2010 53 55 57 EA 41 NA 27 Skin Psoriatic_Lesional_Skin|Psoriatic_Uninvolved_Skin|Skin_normal 53|57
Gibbs et al., 2010 20485568 2010 Gibbs et al., 2010 142 145 150 Caucasian 1062 NA 966 Brain Brain_Cerebellum|Brain_Frontal_Cortex|Brain_Pons|Brain_Temporal_Cortex 142|143|144|150
Idaghdour et al., 2010 19966804 2010 Idaghdour et al., 2009 194 194 194 Morocco 341 NA 306 Blood Leukocytes 194
Inouye et al., 2010 20844574 2010 Inouye et al., 2010 518 518 518 EUR 3 NA 3 Blood Whole_Blood 518
Montgomery et al., 2010 20220756 2010 Pritchard db 60 60 60 EUR 1046 NA 1040 Blood LCLs 60
Murphy et al., 2010 20833654 2010 Murphy et al., 2010 200 200 200 EA 1563 NA 1557 Blood CD4+_lymphocytes 200
Pickrell et al., 2010 20220758 2010 Pritchard db 69 69 69 Nigerian 903 NA 748 Blood LCLs 69
Rotger et al., 2010 20195503 2010 Rotger et al., 2010 153 153 153 EA 188 NA 190 Blood HIV-1_CD4+_T-Cells 153
Zeller et al., 2010 20502693 2010 Pritchard db 1490 1490 1490 Germany 3307 NA 3288 Blood Monocytes 1490
Fehrmann et al., 2011 21829388 2011 Fehrmann et al., 2011 1469 1469 1469 EUR 9686 19,609 7593 Blood Whole_Blood 1469
Grundberg et al., 2011 21283786 2011 Grundberg et al., 2011 106 110 113 Swedish 487 18,144 RefSeq transcripts 479 Bone|Bones Osteoblast_BMP-2|Osteoblast_DEX|Osteoblast_PGE2|Osteoblasts_treated_with_bmp|Osteoblasts_treated_with_BMP2|Osteoblasts_treated_with_dexamethasone|Osteoblasts_treated_with_pge-2|Osteoblasts_treated_with_PGE2|Osteoblasts_untreated|Osteoblasts_with_treatment_interaction 106|113
Innocenti et al., 2011 21637794 2011 Pritchard db 532 532 532 EUR|African|unspecified 1966 NA 1966 Liver Liver 532
Kompass et al., 2011 21226949 2011 Kompass et al., 2011 52 52 52 Norway 48 NA 54 Endometrium Endometrial_Tumor 52
MuTHER 21304890 2011 MuTHER 156 161 166 EUR 9433 NA 5917 Adipose_Tissue|Blood|Skin Adipose_Tissue|LCLs|Skin 156|160|166
Qiu et al., 2011 21949713 2011 Qiu et al., 2011 131 131 131 - 1162 NA 1059 Sputum Sputum 131
Schröder et al., 2011 22006096 2011 Schroder et al., 2011 149 149 149 - 364 NA 304 Liver Liver 149
Webster et al., 2011 19361613 2011 Webster et al., 2011 176 182 188 EUR 623 NA 677 Brain Brain_Cortex_with_Alzheimers_interaction|Brain_Cortex_with_no_Alzheimers_interaction 176|188
Fairfax et al., 2012 22446964 2012 Fairfax et al., 2012 283 283 283 UK (Oxforshire) 14849 NA 9258 Blood B-Cell|Monocytes 283
Gaffney et al., 2012 22293038 2012 Pritchard db 210 210 210 CEU|YRI|CHB|JPT 1881 8,526 1835 Blood LCLs 210
Hao et al., 2012 23209423 2012 Hao et al., 2012 1,111 1111 1,111 EA 1523 NA 1451 Lung lung 1,111
Mangravite et al., 2012 23995691 2012 Pritchard db 480 480 480 AFR-AME|CEU 825 NA 808 Blood LCLs 480
Mehta et al., 2013 22692066 2012 Mehta et al., 2013 322 322 322 Caucasian 343 NA 319 Blood Whole_Blood 322
Zou et al., 2012 22685416 2012 Zou et al., 2012 400 400 400 Caucasian 2607 NA 681 Brain Brain_Cerebellum_Alzheimer_cases|Brain_Cerebellum_Alzheimer_cases_and_controls|Brain_Cerebellum_in_non-Alzheimer_samples|Brain_Cerebellum_in_Progressive_Supranuclear_Palsy_cases|Brain_Temporal_Cortex_Alzheimer_cases|Brain_Temporal_Cortex_Alzheimer_cases_and_controls|Brain_Temporal_Cortex_in_non-Alzheimer_samples|Brain_Temporal_Cortex_in_Progressive_Supranuclear_Palsy_cases 400
Battle et al., 2013 24092820 2013 Battle et al., 2013 922 922 922 EUR 10813 13,857 11009 Blood Whole_Blood 922
Westra et al., 2013 24013639 2013 Westra et al., 2013 5311 5311 5311 - 8077 NA 6663 Blood Whole_Blood 5311
GEUVADIS 24037378 2013 Lappalainen et al. 2013 89 231 373 EUR|YRI 3643 13,703 3279 Blood LCLs 373|89
Kabakchiev et al., 2013 23474282 2013 Kabakchiev et al., 2013 173 173 173 White|Asian|Black 7027 19,047 2864 Small_Intestine Ileum 173
Li et al., 2013 23374354 2013 Li et al., 2013 48 110 171 EUR 998 NA 1000 Breast ErNegative_Breast|ErPositive_Breast 171|48
Aterido et al., 2014 24959711 2014 Aterido et al., 2014 26 26 26 CEU 74 NA 60 Blood CD4_T-Cells|LCLs 26
Fadista et al., 2014 25201977 2014 Fadista et al., 2014 89 89 89 EUR 653 NA 557 Pancreas Islets_of_Langerhans 89
Fairfax et al., 2014 24604202 2014 Fairfax et al., 2014 261 341 414 EUR 32557 15421 probes 9637 Blood Monocytes_Ifn_TopVarV1|Monocytes_Ifn_TopVarV2|Monocytes_Lps24Hrs_TopVar2|Monocytes_Lps24Hrs_TopVarV1|Monocytes_Lps2Hrs_TopVarV1|Monocytes_Lps2Hrs_TopVarV2|Monocytes_Naive_TopVarV1|Monocytes_Naive_TopVarV2 261|322|367|414
Koopmann et al., 2014 24846176 2014 Koopmann et al., 2014 129 129 129 EUR 412 18,402 transcripts 383 Heart left ventricular samples that were collected from non-diseased human donor hearts 129
Lee et al., 2014 24604203 2014 Lee et al., 2014 122 209 295 EUR|AfrAmr|EastAsn 943 NA 373 Blood Dendritic_Cells 295|122|117 534
Ramasamy et al., 2014 25174004 2014 Ramasamy et al., 2014 101 124 134 EUR 9290 NA 2998 Brain Brain_AverageAllTissue|Brain_Cerebellar_Cortex|Brain_Frontal_Cortex|Brain_Hippocampus|Brain_Inferior_Olivary_Nucleus_Medulla|Brain_Occipital_Cortex|Brain_Putamen|Brain_Substantia_Nigra|Brain_Temporal_Cortex|Brain_Thalamus|Brain_White_Matter 101|119|122|124|127|129|130|131|134
Andiappan et al., 2015 26259071 2015 Andiappan et al., 2015 114 114 114 CHB 871 NA 784 Blood Neutrophils 114
Thibodeau et al., 2015 26611117 2015 Thibodeau et al., 2015 471 471 471 EUR 142 NA 148 Prostate Prostate 471
Chen et al., 2016 27863251 2016 Chen et al., 2016 197 197 197 UK 19600 NA 12706 Blood Monocytes, neutrophils, t-cells 197
GTex (V6p) 2016 25954001 2016 GTEx Consortium 70 163 361 European,AfricanAmerican,Asian 135017 NA 27998 Adipose_Tissue|Adrenal_Gland|Blood|Blood_Vessel|Brain|Breast|Esophagus|Heart|Large_Intestine|Liver|Lung|Muscle|Nerve|Ovary|Pancreas|Pituitary|Prostate|Skin|Small_Intestine|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skel et al., |Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 100|103|114|118|124|126|127|149|157|159|169|170|183|185|190|196|197|218|241|256|272|278|285|298|302|338|361|70|72|77|79|81|82|85|87|89|92|93|96|97
Zhernakova et al. 2017 27918533 2017 BIOSQTL 2116 2116 2116 Dutch 40470 NA 20584 Blood Whole_Blood 2116
GTex (V7) 2017 gtexportal.org 2017 GTEx Consortium 80 214 491 White,AfricanAmerican,AmericanIndian;Asian;Unknown 218213 NA 31346 Adipose_Tissue|Adrenal_Gland|Blood|Blood_Vessel|Brain|Breast|Cells_Transformed_fibroblasts|Connective_tissue|Esophagus|Female_reproductive_system|Heart|Large_Intestine|Liver|Lung|Male_reproductive_system|Muscle|Nerve|Pancreas|Pituitary|Salivary_Gland|Skin|Small_Intestine|Spleen|Stomach|Thyroid Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 385|313|175|267|152|388|88|109|144|125|154|136|118|111|108|130|111|83|80|251|117|300|203|246|213|358|335|264|272|153|383|85|491|361|122|220|157|132|335|414|122|146|237|225|399|101|106|369
Pala et al., 2017 28394350 2017 Pala et al., 2017 606 606 606 SRD 20410 NA 10850 Blood Leukocytes 606
Schmiedel et al., 2018 30449622 2018 Schmiedel et al., 2018 91 91 91 Multipop. 29093 NA 12142 Blood Activated_naive_CD4Positive_T_cells|Activated_naive_CD8Positive_T_cells|Classical_monocytes|Memory_TREG_cells|Naive_B_cells|Naive_CD4Positive_T_cells|Naive_CD8Positive_T_cells|Naive_TREG_cells|NK_cells|Non_classical_monocytes|TFH_cells|TH1_17_cells|TH17_cells|TH1_cells|TH2_cells 91




Feature Counts
Projects 53
Datasets 199
Human populations 15
Body districts 33
eQTLs 486,244
eGenes 36,768


Human populations


Body districts




eGenes and year of publication

We collected the results of eQTLs studies published since 2007. In the baplots are reported the number of genes with at least one eQTL (eGenes) found in each study segmented by the year of publication of the study.

In dark blue is reported the number of eGenes found in at least two studies (here called CommonData), in light blue the number of eGenes that are found only in a specific study. Mouse over the bars to see to which study they belong to.



Protein-coding eGenes


lincRNA eGenes




eGenes and sample size

The sample size is a critical experimental feature that determines the power of a study. Knowing the discovery ratio based on the sample size for published datases could be halpful when designing a new experiment

The plots on the right show that sample size is not always fully predictive of the power of studies. In fact other experimental features like the technology and the statistical methods used are relevant.

Mouse over the scatterplots to see to which study the results belong to.



Protein-coding eGenes
lincRNA eGenes