Fig. 4

Lead trans-eQTLs are enriched in open chromatin and regulatory regions. a Log₂ enrichments (x-axis) within accessible chromatin regions from [24]. The significance is denoted by * for p ≤0.05, ** for p ≤0.01, and *** for p ≤0.001. The GTEx tissues are ordered by the number of lead trans-eQTLs. For tissue abbreviations, see Additional file 1: Appendix 2. b, Log₂ enrichments near known eQTLs and reporter assay QTLs (raQTLs) [25]. Cis-TF: enrichment to occur within ±100kbp from transcription factors reported in [26]; Cis-eQTL: enrichment among cis-eQTLs SNPs reported in the GTEx v8 analysis [6]; raQTL: enrichment in raQTL regions showing enhancer-like activity in K562 or HepG2 cells [25]. Heatmap colors encode log₂ enrichment, circular marks signify p<0.01. The area of the colored circles on x-axis labels indicates the log number of lead trans-eQTL associations identified. Left plot: mean log₂ enrichment across all tissues. c Log₂ enrichments within tissue-specific regulatory regions. Only tissues that could be matched to the corresponding tissue annotation in the Roadmap Epigenomics Project [27] and had at least 10 trans-eQTLs are shown. Enhancers and bivalently marked regions show clear enrichments for most tissues. d Types of transcripts affected in cis by the lead trans-eQTLs. Only tissues with at least 10 cis-affected transcripts (numbers on top) are shown