Genetic effects on chromatin accessibility uncover mechanisms of liver gene regulation and quantitative traits

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Figure 4.
Figure 4.

Heritability enrichment and GWAS colocalization. (A) Heritability enrichment of GWAS traits in caPeaks (FDR < 5%). Enrichment fold change and standard errors. (B) Percentage of GWAS signals for each trait that is colocalized with caQTLs (purple) or eQTLs (blue). (C) Colocalized GWAS (gamma-glutamyltransferase), eQTL (TGFB1), and caQTL (caPeak156441) associations. The caQTL lead variant (rs73045269) is shown in each plot by a purple diamond, and colors represent LD r2 values from 1000G Europeans. (D) Sequence logo motif for FLI1 that is disrupted by caQTL variant rs56254331 (position shown by arrow) within caPeak156441. The motif match is on the negative strand, so the C allele of rs56254331 corresponds to G in the motif. The C allele (G in the motif) is predicted to have a stronger motif match compared with the A allele (T in the motif).

This Article

  1. Genome Res. 35: 1485-1502

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