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. 2020 Mar 26;106(4):496–512. doi: 10.1016/j.ajhg.2020.03.002

Figure 1.

Figure 1

Overview of eQTL Mapping Results in GENOA

(A) The locations of the eQTLs in the eQTL analysis are shown relative to the most 5′ gene transcription start site (TSS) and the most 3′ gene transcription end site (TES) for each of the 5,475 eGenes in AA.

(B) The locations of the eSNPs are shown relative to the most 5′ TSS and the most 3′ TES for each of the 4,402 eGenes in EA.

In both (A) and (B), identified eQTLs are enriched near TSS, TES, and gene body. For SNPs residing between TSS and TES, we scaled its distance to the transcript starting site by gene length.

(C) The effect size and direction of effect for the shared gene-SNP pairs (112,316) between AA and EA are highly consistent.

(D) Venn diagram plots show the overlap of eGenes and eSNPs identified in AA and EA.