Supplementary Figure 7: Enrichment of GWAS signals within iPSC-CM functional annotations using fgwas single state models. | Nature Genetics

Supplementary Figure 7: Enrichment of GWAS signals within iPSC-CM functional annotations using fgwas single state models.

From: Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits

Supplementary Figure 7

Fgwas natural log fold enrichment of iPSC-CM genomic annotations (y-axis) in heart rate (den Hoed, M. et al. Nat. Genet. 45, 621-631, 2013), atrial fibrillation (Christophersen, I. E. et al. Nat. Genet. 49, 946-952, 2017), and PR interval (van Setten, J. et al. Nat. Commun. 9, 2904, 2018) GWAS signals. Solid circles indicate significant enrichment (defined as 95% CI above zero) and the bars indicate the 95% confidence intervals. The genomic annotations include NKX2-5 ASE-SNVs, NKX2-5 peaks, ATAC-seq peaks, H3K27ac peaks and H3K27ac ASE-SNVs. Peaks were called by combining all samples from each data type. The number of SNPs analyzed for each GWAS was: 2,516,407 SNPs for heart rate, 11,779,664 SNPs for atrial fibrillation, and 2,712,310 SNPs for PR interval.

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