eqtlgen

is a Data Source.

The eQTLGen Consortium conducts large-scale meta-analyses of expression quantitative trait loci (eQTLs) in blood samples to investigate the genetic architecture of gene expression and understand the genetic underpinnings of complex traits. Phase I analyzed 31,684 blood and PBMC samples from 37 cohorts, identifying thousands of cis-eQTLs, trans-eQTLs, and expression quantitative trait score (eQTS) associations. The consortium also includes a single-cell eQTLGen project. Phase II is expanding to genome-wide eQTL meta-analysis across even more blood-based cohorts. The resulting summary statistics provide a valuable resource for interpreting genome-wide association studies (GWAS), developing novel methods, and understanding molecular mechanisms of complex traits.

Domains

genomics, biological systems

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Homepage

eqtlgen

Repository

GitHub

Infores ID

Unknown

FAIRsharing ID

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Product Summary

Products

From this Resource
ID Name URL Category Format Description
eqtlgen.cis_eqtl_significant Significant cis-eQTLs 2019-12-11-cis-eQTLsFDR0.05-ProbeLevel-CohortInfoRemoved-BonferroniAdded.txt.gz (307.8 MB) Product tsv Significant cis-eQTL associations fro...
eqtlgen.cis_eqtl_full Full cis-eQTL Summary Statistics 2019-12-11-cis-eQTLsFDR-ProbeLevel-CohortInfoRemoved-BonferroniAdded.txt.gz (3.6 GB) Product tsv Full cis-eQTL summary statistics from...
eqtlgen.trans_eqtl_significant Significant trans-eQTLs 2018-09-04-trans-eQTLsFDR0.05-CohortInfoRemoved-BonferroniAdded.txt.gz (1.8 MB) Product tsv Significant trans-eQTL associations f...
eqtlgen.trans_eqtl_full Full trans-eQTL Summary Statistics 2018-09-04-trans-eQTLsFDR-CohortInfoRemoved-BonferroniAdded.txt.gz (5.7 GB) Product tsv Full trans-eQTL summary statistics fr...
eqtlgen.cis_eqtl_smr SMR-formatted cis-eQTLs cis-eQTL-SMR_20191212.tar.gz (1.3 GB) Product txt cis-eQTL results formatted for Summar...
eqtlgen.allele_frequencies Allele Frequencies 2018-07-18_SNP_AF_for_AlleleB_combined_allele_counts_and_MAF_pos_added.txt.gz (228.9 MB) Product tsv Allele frequencies for all tested SNP...
eqtlgen.phase1_browser eQTLGen Phase I Browser phase1.html GraphicalInterface http Web interface for browsing significan...
eqtlgen.phase2_cookbook eQTLGen Phase II Cookbook eQTLGen-p2-cookbook.html DocumentationProduct http Analysis cookbook and documentation f...
eqtlgen.sc_website Single-cell eQTLGen Website sc GraphicalInterface http Website for the single-cell eQTLGen p...
From other Resources
ID Name URL Category Format Description
epigraphdb.graph EpiGraphDB Graph Database graph-database GraphProduct neo4j Integrated graph knowledge base combi...

Details

eQTLGen Consortium

The eQTLGen Consortium is a collaborative effort to map the genetic architecture of blood gene expression through large-scale meta-analyses of expression quantitative trait loci (eQTLs). By harmonizing data from dozens of cohorts worldwide, the consortium provides highly powered detection of genetic effects on gene expression.

Key Features

  • Phase I: Meta-analysis of 31,684 blood and PBMC samples from 37 cohorts
  • cis-eQTLs: Thousands of local genetic variants affecting nearby gene expression
  • trans-eQTLs: Targeted analysis of ~10,000 trait-related variants affecting distant genes
  • eQTS: Expression quantitative trait scores for polygenic regulation
  • Single-cell eQTLGen: Single-cell flavour of the consortium for cell-type-specific eQTL mapping
  • Phase II: Expanded genome-wide eQTL meta-analysis currently underway

The summary statistics and analysis resources enable researchers to interpret GWAS findings, prioritize candidate genes, and understand molecular mechanisms underlying complex traits.

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Created: September 03, 2025 | Last modified: October 21, 2025