Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants

Identification of common, cardiac-specific regulatory sequence variants. (A) deltaSVM scores from the cardiac-specific model as compared to allele-biased chromatin accessibility. (C) Pearson correlation coefficient, (n) number of variants, (P) t-distribution P-value. (B) Precision-recall curves of deltaSVM scores of allele-biased DHSs against 4× larger control SNP sets; the dashed green line indicates the recall rate 40%. Error bars are the standard errors calculated from 10 independently sampled control SNP sets. (C,D) Statistical significance (P) of deltaSVM SNPs from the generic (C) and specific (D) cardiac models as compared to eQTLs using the χ² test; the two heart tissues are highlighted. (AA) Heart atrial appendages, (LV) heart left ventricles. The Bonferroni-corrected P-value threshold (0.05) is shown as a dashed line.