eQTLs catalog

Version 20180615





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) SuperPopID pop eQTL_chrmPos_SNP_INDELCis/Trans (anche gli eGenes NA) #eGenes Tissue CellType cell activation disease SampleSize
Andiappan et al., 2015 26259071 2015 Andiappan et al., 2015 114 114 114 Asian Chinese 871 784 Blood Neutrophils . healthy 114
Aterido et al., 2014 24959711 2014 Aterido et al., 2014 26 28 29 European European|CEU (HAPMAP) 74 60 Blood|Blood CD4_T-Cells|LCLs . healthy|RA 29|26
Battle et al., 2013 24092820 2013 Battle et al., 2013 922 922 922 European European ancestry 10533 11009 Blood Whole_Blood . healthy_Depresison 922
Zhernakova et al. 2017 27918533 2017 BIOSQTL 2116 2116 2116 European Dutch 40470 20584 Blood Whole_Blood . healthy 2116
Westra et al., 2013 24013639 2013 Westra et al., 2013 5311 5311 5311 NA NA 8084 6663 Blood Whole_Blood . NA 5311
Borel et al., 2010 21147911 2010 Borel et al., 2010 180 180 180 European Western European 57 36 Connective tissue Fibroblasts . healthy 180
Chen et al., 2016 27863251 2016 ChenEtAl2016 132 175 197 European European 19600 12706 Blood Monocytes, neutrophils, t-cells . healthy 196|197|132
Dimas et al., 2009 19644074 2009 Pritchard db 75 75 75 European Western European 1.102 971 Connective tissue|Blood|Blood Fibroblasts|LCLs|T-Cells . healthy 75
Ding et al., 2010 21129726 2010 Dinget al., 2010 53 54 57 European European ancestry 41 27 Skin Lesional_Skin|Uninvolved_Skin|Skin . Psoriasis 53|53|57
Dixon et al., 2007 17873877 2007 Dixon et al., 2007 378 378 378 European British 2006 1433 Blood LCLs . healthy_Ashtma 400
Fadista et al., 2014 25201977 2014 Fadista et al., 2014 89 89 89 European European ancestry 654 560 Pancreas Islets_of_Langerhans . healthy|IGT|T2D|NA 89
Fairfax et al., 2012 22446964 2012 Fairfax et al., 2012 283 283 283 European European 14.850 9258 Blood B-Cell|Monocytes . healthy 283
Fairfax et al., 2014 24604202 2014 Fairfax et al., 2014 261 341 414 European European 28708 9637 Blood Monocytes Ifn|Lps2Hrs|Lps24hrs|Naive healthy 261|322|367|414
Fehrmann et al., 2011 21829388 2011 Fehrmann et al., 2011 1469 1469 1469 European UK and Netherland 9.688 7593 Blood Whole_Blood . healthy_UC_IBD_CeliacDisease_COPD_ALS 1469
Gaffney et al., 2012 22293038 2012 Pritchard db 210 210 210 Multipopulation HAPMA -CEU|YRI|CHB|JPT 1.881 1835 Blood LCLs . healthy 210
GEUVADIS 24037378 2013 Lappalainen et al. 2013 89 231 373 European|African EUR|YRI 3.643 3279 Blood LCLs . healthy 373|89
Gibbs et al., 2010 20485568 2010 Gibbs et al., 2010 142 143 144 European European ancestry - Caucasian 1071 966 Brain Brain_Cerebellum|Brain_Frontal_Cortex|Brain_Pons|Brain_Temporal_Cortex . healthy 143|143|142|144
Grundberg et al., 2009 19654370 2009 Grundberg et al., 2009 95 95 95 European Swedish 264 259 Bone Osteoblasts . healthy 94
Grundberg et al., 2011 21283786 2011 Grundberg et al., 2011 96 99 101 European Swedish 487 479 Bone Osteoblasts BMP-2 (2h)|DEX(24h)|PGE2(24h) healthy 96| 101|100
GTex (V6p) 2016 25954001 2016 GTEx Consortium 70 163 361 Multipopulation European, african american, Asian 135017 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_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 . healthy 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
Hao et al., 2010 20084173 2010 Hao et al., 2010 59 59 59 African AfricanAmerican 70 NA Liver Liver . Healthy-Obese 59
Hao et al., 2012 23209423 2012 Hao et al., 2012 1.111 1.111 1.111 European European Ancestry 1523 1451 Lung lung . NA 1111
Heap et al., 2009 19128478 2009 Heap et al., 2009 110 155 200 European UK 813 778 Blood Leukocytes . CeliacDisease 110
Idaghdour et al., 2010 19966804 2010 Idaghdour et al., 2009 194 194 194 African Morocco 341 306 Blood Leukocytes . healthy 194
Innocenti et al., 2011 21637794 2011 Pritchard db 266 266 266 Multipopulation European|African|Non-European-238|23|5 1966 1966 Liver Liver . healthy 266
Inouye et al., 2010 20844574 2010 Inouye et al., 2010 518 518 518 European Finnish 3 3 Blood Whole_Blood . NA 518
Kabakchiev et al., 2013 23474282 2013 Kabakchiev et al., 2013 173 173 173 Multipopulation White|Asian|Black-153|18|2 7027 2864 Small_Intestine Ileum . Ulcerative_colitis_or_Familial_adenomatous_polyposis 173
Kompass et al., 2011 21226949 2011 Kompass et al., 2011 52 52 52 European Norway 48 54 Endometrium Endometrium . tumor 52
Koopmann et al., 2014 24846176 2014 Koopmann et al., 2014 129 129 129 European European Ancestry 412 383 Heart Left_Ventricle . healthy 129
Kwan et al., 2008 18193047 2008 Kwan et al., 2008 60 60 60 European CEU (HAPMAP) 313 302 Blood LCLs . healthy 60
Lee et al., 2014 24604203 2014 LeeEtAl2014 284 378 528 Multipopulation Caucasians|AfricanAmericans|EastAsians 998 373 Blood Dendritic_Cells resting|LPS|influenza|IFN? healthy 528|356|342|284
Li et al., 2013 23374354 2013 Li et al., 2013 48 110 171 European European Ancestry 998 1000 Breast Breast . ErNegative_Tumor|ErPositive_Tumor 171|48
Mangravite et al., 2012 23995691 2012 Pritchard db 480 480 480 Multipopulation AfricanAmerican|Caucasian 825 808 Blood LCLs . healthy 480
Mehta et al., 2013 22692066 2012 Mehta et al., 2013 322 322 322 European Caucasian 343 319 Blood Whole_Blood . healthy 322
Montgomery et al., 2010 20220756 2010 Pritchard db 60 60 60 European CEU (HAPMAP) 1046 1040 Blood LCLs . healthy 60
Murphy et al., 2010 20833654 2010 Murphy et al., 2010 200 200 200 European European 1563 1557 Blood CD4+_T-Cells . Ashtma 200
MuTHER 21304890 2011 MuTHER 156 161 166 European Caucasian 24190 11978 Adipose_Tissue|Blood|Skin Adipose_Tissue|LCLs|Skin . healthy 156|160|166
Myers et al., 2007 17982457 2007 Myers et al., 2007 193 193 193 European European ancestry 211 240 Brain Brain_Cortex . healthy 193
Pala et al., 2017 28394350 2017 PalaEtAl2017 606 606 606 European Sardinian 20410 10850 Blood Leukocytes . healthy 606
Pickrell et al., 2010 20220758 2010 Pritchard db 69 69 69 African YRI (HAPMAP) 903 748 Blood LCLs . healthy 69
Qiu et al., 2011 21949713 2011 Qiu et al., 2011 131 131 131 European Caucasian 1162 1059 Sputum Sputum . COPD 131
Ramasamy et al., 2014 25174004 2014 Ramasamy et al., 2014 101 124 134 European European 9305 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 . healthy 134|130|127|122|119|129|129|101|119|124|131
Rotger et al., 2010 20195503 2010 Rotger et al., 2010 190 190 190 European Caucasian 188 190 Blood CD4+_T-Cells . HIV 190
Schadt et al., 2008 18462017 2008 Schadt et al., 2008 427 427 427 European European ancestry - Caucasian 3315 2294 Liver Liver . NA 427
Schroder et al., 2011 22006096 2011 Schroder et al., 2011 149 149 149 European Caucasian 364 304 Liver Liver . healthy* 149
Stranger et al., 2007 17873874 2007 Stranger et al., 2007 45 68 90 European|Africans|Asian|Asian HAPMAP - CEU|YRI|CHB|JPT 1234 640 Blood LCLs . healthy 90|90|45|45
Thibodeau et al., 2015 26611117 2015 Thibodeau et al., 2015 471 471 471 European European 143 149 Prostate Prostate . healthy 471
Veyrieras et al., 2008 18846210 2008 Pritchard db 210 210 210 Multipopulation HAPMAP-Multi-population 1645 1361 Blood LCLs . healthy 210
Webster et al., 2011 19361613 2011 Webster et al., 2011 176 182 188 European European ancestry - Caucasian 631 677 Brain Brain_Cortex . Alzheimer|healthy 176|188
Zeller et al., 2010 20502693 2010 Pritchard db 1490 1490 1490 NA Recruited in Germany 3311 3288 Blood Monocytes . healthy 1490
Zou et al., 2012 22685416 2012 Zou et al., 2012 177 249 374 European European Ancestry 2608 681 Brain Brain_Cerebellum . Alzheimer|nonAlzeihmerbraindiseas|combined 197|177|374




Feature Counts
Projects 51
Human populations 15
Body districts 25
Sample type 94
eGenes 33,711
eQTLs 314,103


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