We examine long range genomic interactions using Hi-C, whereby the promoter region has a strong chromatin interaction with a novel SNV. One example is EPAS1, which is ˜200kb away from the SNV (rs11690961). It encodes hypoxia-inducible factor 2alpha, which affects catecholamine homeostasis, protects against heart failure and mutations in the gene are associated with pulmonary hypertension56. Another such gene is INHBA, 1.3Mb away from the SNV (rs12531683), which is elevated in pulmonary hypertension and contributes to vascular remodelling by inducing expression of endothelin-1 and plasminogen activator inhibitor-1 in pulmonary smooth muscle cells57.
