Fig. 1
From: An enhancer cluster controls gene activity and topology of the SCN5A-SCN10A locus in vivo
Identification of a cardiac-specific, multi-component ‘super enhancer’ in the human SCN5A-SCN10A locus. a Hi-C heatmap, visualized using HiGlass, from human lymphobastoid line GM1287821 of the SCN5A TAD. -log(P values) of the genetic variants associated with PR interval3,5 and QRS duration4, human EMERGE track29 and CTCF ChIP human cardiac muscle cells are included of the SCN5A-SCN10A locus. b UCSC browser view of the intergenic region between SCN5A and EXOG, composed of four constituent regulatory elements (RE6-9) with “super enhancer” characteristics based on human EMERGE, H3K27ac ChIP human left ventricle and Mediator 1 (MED1) ChIP from iPSC-derived cardiomyocytes32. PR interval-associated and QRS duration-associated (–log(P value)) variants are shown in the enhancer cluster. c Dorsal view of E10.5 hearts containing human regulatory elements RE64, 7 and 925 in a Hsp68/LacZ enhancer reporter vector. Human RE6 (4/5) is active in the interventricular septum and 9 (6/8) shows in vivo activity in the interventricular septum and left ventricle of embryonic mouse heart. RE7 (1/3) displays only cardiac activity in the embryonic outflow tract. Black scale bar is 0.5 mm. LA left atrium, LV left ventricle, RA right atrium, RV right ventricle, AVC anterior ventricular canal
