Fig. 1
From: Genome-wide analysis yields new loci associating with aortic valve stenosis
Chromatin interactions between regulatory regions harboring candidate causal variants at the PALMD and TEX41 loci. Chromatin states indicative of regulatory regions for the aortic valve stenosis locus on chromosomes 1p21 (a) and 2q22 (b) are shown for heart and aorta tissue samples. Different types of regulatory states are indicated with distinct colors shown at the top of the figure. EnhA (Enhancer Active), EnhW (Enhancer Weak), PromUp/Dn (Chromatin marks characteristic of a promoter region found upstream or downstream of TSS), DNase (DNase, nucleosome-free/open chromatin region), PromP (Promoter poised region, marked simultaneously as active and repressed, poised for activation during development), TssA (Transcription Start Site, Activated), and Repr (Repressive marks, heterochromatin). Vertical gray lines indicate the variants found in LD (R2 > 0.50) with a rs7543130 (*) (N = 19) or b rs1830321 (+) (N = 50). Variants found to overlap with regulatory regions in any of the five tissues are marked up and indicated as red vertical lines. Long-range chromatin interactions in left ventricle tissue samples are shown for a the region harboring rs1890753 on chromosome 1p21 with red curved lines, including interactions to promoters for PALMD, PLPPR4, PLPPR5, DPH5 and SNX7, LOC100129620 and LOC101928270, and for b regions harboring rs13028626, rs6749506, rs2252654, rs4662414, and rs13408842 that directly interact with the promoter regions of ZEB2, GTDC1, ZEB2-AS1, LINC01412 and TEX41
