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. 2021 Jul 14;108(9):1578–1589. doi: 10.1016/j.ajhg.2021.06.016

Figure 2.

Figure 2

Functional characterization of TCF7L2 locus

(A) LocusZoom plot of aortic eQTL of TCF7L2. LD colors are with respect to the TAA index variant rs4073288.

(B) Comparison of p values in TAA GWAS and aortic eQTL from GTEx. These two associations colocalize with posterior probability 0.96 by COLOC. The solid shapes represent 23 variants that were in both GWAS and eQTL 95% credible sets. Two variants were prioritized by RegulomeDB (rs4074718 and rs4077527).

(C) Regulatory landscape of TCF7L2 gene body in thoracic aorta/ascending aorta from ENCODE. The fine-mapped variant rs4077527 intersects with DNase I hypersensitive site (DHS) and H3K27ac in this tissue. Using promoter capture Hi-C in aorta, we highlighted only genomic bins that significantly interact (p < 0.01) with TCF7L2 promoter. Promoter capture Hi-C p values for 23 variants are given in Figure S4B.