Fig. 3
From: De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies
Chromatin interaction map of chr20:44,116,250 locus. A One-to-all interaction plots are shown for the lead variant chr20:44,116,250 A > G shown in blue as bait. Y-axes on the left and the right measure bias-removed interaction frequency (blue bar graph) and distance-normalised interaction frequency (magenta dots), respectively. The arc representation of significant interactions for distance-normalised interaction frequencies ≥ 2 is displayed relative to the Refseq-annotated genes in the locus. The DNV physically interacts with the JPH2 enhancer by long-range chromatin interaction. B Close-up of region containing JPH2. The ABC model independently predicted the DNV (red triangle) is within the JPH2 enhancer. CM = cardiomyocyte