Figure 2: Chromatin interactions between associated variants and GATA4.
From: Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
The topological domain region containing associated variants (orange vertical lines), genes (green bars), chromatin interactions by Hi-C (blue loops) and ChIA-PET (purple loops), and chromatin state (outer ring and standard colours from ref. 68 but of significance here: yellow as enhancers, red as promoters, green as transcribed, blue as CTCF and grey as inactive). All data are from K562 cells. rs3729856 is indicated as falling within a coding exon of GATA4. rs6601627 was identified as the associated variant to BAV and rs118065347 is the putative functional variant in linkage. rs11865347 overlaps an annotated enhancer as well as a ChIA-PET loop connecting to a region 3′ of GATA4.
