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eQTL databases specifications


Unique identifier OMICS_05305
Name eQTL databases
Restrictions to use None
Maintained Yes


  • person_outline William O.C. Cookson

Publication for eQTL databases

eQTL databases citations


From SNPs to pathways: Biological interpretation of type 2 diabetes (T2DM) genome wide association study (GWAS) results

PLoS One
PMCID: 5884486
PMID: 29617380
DOI: 10.1371/journal.pone.0193515

[…] ci that contain sequence variants that are found to affect the expression of genes. They are identified by relating gene expression measurements to genotyping information in panels of individuals []. eQTL databases, such as GTEx portal [], provide the opportunity to link GWAS results to the transcriptome level, in which a GWAS hit matching an eQTL for a given gene, brings up the hypothesis that th […]


Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease

PLoS Genet
PMCID: 5393901
PMID: 28369058
DOI: 10.1371/journal.pgen.1006706

[…] ghted network analysis was performed where each path through the network was weighted by the strength of the (trans) eQTL of the index-SNP. The eQTL values were calculated using a large collection of eQTL databases with tissues and cells relevant to cardiovascular disease. Like in the unweighted network analysis permutation was used to determine significance threshold. Through this weighted networ […]


Genome wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci

Sci Rep
PMCID: 5253627
PMID: 28112199
DOI: 10.1038/srep41071

[…] peak data, namely DNase-seq peaks of open chromatin, FAIRE peaks of open chromatin, TFBS SPP-based peaks, TFBS PeakSeq-based peaks and Histone peaks. In addition, eQTLs were determined using several eQTL databases, namely eQTL Browser, GTEx and seeQTL. Common networks were identified using GeneMANIA. This database collated data on protein and genetic interactions from a number of sources, includi […]


Molecular mechanisms underlying noncoding risk variations in psychiatric genetic studies

Mol Psychiatry
PMCID: 5378805
PMID: 28044063
DOI: 10.1038/mp.2016.241

[…] 0 human brain regions from control individuals, establishing a comprehensive data set for regional specificity of gene expression regulation across human brain.Next, the varying sample sizes of brain eQTL databases can potentially affect the reliability of eQTL analyses. It is known that the power to detect eQTL is partly a function of sample size. Although it was estimated that a sample size of 1 […]


Systematic analysis of chromatin interactions at disease associated loci links novel candidate genes to inflammatory bowel disease

Genome Biol
PMCID: 5131449
PMID: 27903283
DOI: 10.1186/s13059-016-1100-3

[…] s. These analyses confirm that our approach is capable to pick up every candidate gene that was found to have SNP-dependent expression levels in tissues relevant for IBD. As expected based on the two eQTL databases that were used, not all 4C-seq candidate genes we found to have a SNP-dependent expression pattern. This is (at least in part) due to the highly context-specific nature of SNP-dependent […]


Genome wide association studies in East Asians identify new loci for waist hip ratio and waist circumference

Sci Rep
PMCID: 4726286
PMID: 26785701
DOI: 10.1038/srep17958

[…] ct on WC and WHR is less evident.We evaluated putative functional significance for each newly-identified locus using the Encyclopedia of DNA Elements (ENCODE) and expression quantitative trait locus (eQTL) databases. Three of these novel SNPs, rs3809128 near CNPY2, rs2057291 at GNAS, and rs3791679 near EFEMP1, were predicted to be functional as they are located either in promoter or enhancer regio […]


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eQTL databases institution(s)
Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA

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