Extended Data Fig. 7: Examples of candidate CAD functional variants within macrophage accessible chromatin. | Nature Genetics

Extended Data Fig. 7: Examples of candidate CAD functional variants within macrophage accessible chromatin.

From: Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk

Extended Data Fig. 7

(a) CAD GWAS locus MAP1S/FCHO1 on chromosome 19 depicting multiple genome-wide significant variants (above dashed line). Highlighted variant rs10418535 is located within a macrophage/immune cell ATAC peak as shown in the genome browser tracks. gkm-SVM importance scores show the predicted effects of the T allele to form a functional binding site, while the C allele (non-effect) is predicted to disrupt TF binding. (b) Genome browser view showing 95% credible CAD SNPs (blue), highlighting rs7296737 located within a strong macrophage marker peak in the first intron of SCARB1 on chr12. (c) Genome browser view highlighting top credible CAD SNP rs17680741 residing in macrophage marker peak in the second intron of TSPAN14 on chr10.

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