Figure 1.

rs11708067 overlaps pancreatic islet open chromatin and a strong enhancer chromatin state in ADCY5 intron 3. The 50-kb region shown includes all 17 variants in strong LD (r² >0.8, 1000 Genomes phase 3 EUR) with the type 2 diabetes–associated single nucleotide polymorphism rs11708067 (in boldface type) (18 total noncoding candidate variants located within ADCY5 introns 1–3). Selected Encyclopedia of DNA Elements (ENCODE) open chromatin (DNase, FAIRE) (21,22), chromatin accessibility (ATAC-seq) (20), and RNA-seq and chromatin state tracks (28) are shown. The black vertical line above the pancreatic islet open chromatin tracks represents the 231-bp segment containing rs11708067 that was tested in luciferase reporter assays. GM12878, lymphoblastoid cells from B cells; H1 ES, embryonic stem cells; HepG2, human hepatocellular carcinoma cells; HMEC, human mammary epithelial cells; HSMM, human skeletal muscle myoblasts; HUVEC, human umbilical vein endothelial cells; islets, pancreatic islets; K562, leukemia cell line; NHEK, epidermal keratinocytes; NHLF, lung fibroblasts.