Fig. 6
Polymorphisms associated with heart disease are enriched in cardiac myocyte LMRs. a Disease-associated polymorphisms overlap with cardiac myocyte LMRs. Single-nucleotide polymorphisms (SNPs) were extracted from GWAS studies and proxy SNPs in linkage disequilibrium were identified. Enrichment of SNPs in cardiac myocyte LMRs as compared to randomly sampled genomic regions was calculated for different disease traits. Shown are fold-enrichments. Circular areas reflect the respective level of significance. Numbers indicate −log10(Chi-squared p-values). b Venn diagram of LMR-containing SNPs, which have been linked with cardiac arrhythmia, coronary heart disease, or non-cardiovascular disease SNPs (digestive, immune, metabolic, and nervous system disease as well as cancer). c GREAT analysis of LMRs containing cardiac arrhythmia SNPs. Shown are enriched biological processes with FDR-corrected p-values < 10–8. d–f Enrichment of histone marks and mCpG in cardiac arrhythmia or coronary heart disease loci overlapping with cardiac myocyte LMRs. Shown are box plots with whiskers (5–95th percentile). Figures show data from n biological replicates: mCpG, n = 3–5; H3K27ac, H3K4me1, n = 3; RNA, n = 3–4. ** vs. Fe, p<0.01; ***vs. Fe, p < 0.001 by ANOVA
