Extended Data Fig. 7: Causal variant enrichment for GWAS.
From: Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles
a and b. The mean causal variant enrichment for GWAS within cell-type-specific and aggregated SCENT enhancers (teal), ENCODE cCREs (pink), group-specific and aggregated EpiMap enhancers (red) and sample-specific and aggregated ABC enhancers (blue). GWAS results were based on FinnGen (a) and UK Biobank (b). The bars indicate 95% confidence intervals by bootstrapping traits (nbootstrap=1000). c. The mean causal variant enrichment for FinnGen GWAS (see Methods) within SCENT peaks with excluding all promoters (teal) or cis-regulatory ATAC-seq peaks with excluding all promoters (yellow) in each of the 9 single-cell datasets. The bars indicate 95% confidence intervals by bootstrapping traits (nbootstrap=1000). d. The mean causal variant enrichment for FinnGen GWAS (see Methods) within SCENT peaks (teal) or non-SCENT peaks with matching distance to TSS (pink) in each of the 9 single-cell datasets. The bars indicate 95% confidence intervals by bootstrapping traits (nbootstrap=1000). e. The fraction of known genes from Mendelian autoimmune diseases among all the genes identified by SCENT, EpiMap, and ABC model. The color of the bars indicates the cell types in each linking method.
