Fig. 4: Contribution of SNVs inside and outside cell-specific snATAC-seq peaks to the observed heritability of CAD.
From: Rare variant contribution to the heritability of coronary artery disease
a Proportion of each LD score-MAF-Peak bin to the global CAD heritability estimate for each cell type. Each label in the legend represents a combination of: i) MAF (UR: ultra-rare (MAF ≤ 0.1%), R: rare (0.1% < MAF ≤ 1%), UC: uncommon (1% <MAF ≤ 10%), C: common (10% < MAF ≤ 50%)); ii) LD score (LO: low, HI: high); and iii) Peak (IN: inside, OUT: outside). b Log enrichment ratio of snATAC-seq peaks in each LD score-MAF bin for each cell type. Each label on the y-axis is defined as in (a). Black lines represent the average log enrichment ratio across all 13 cell types. Error bars show ± one SE from each log enrichment ratio estimate. SEs are calculated from GCTA’s output of the covariance matrix of contribution estimates to heritability in each bin and their corresponding number of SNVs (see Supplementary “Methods” for derivation details). CAD, coronary artery disease; LD, linkage disequilibrium; MAF, minor allele frequency; Endo, endothelial cells; Fibrobl, fibroblasts; Fibromyo, fibromyocytes; Macro, macrophages; NK, natural killer cells; Peri, Pericytes; SMC, smooth muscle cells; snATAC-seq, single-nucleus assays for transposase accessible chromatin with sequencing; SNV, single nucleotide variant.