Extended Data Fig. 5: Human Islet chromatin conformation at loci spanning HK1 and secreted endocrine genes. | Nature Genetics

Extended Data Fig. 5: Human Islet chromatin conformation at loci spanning HK1 and secreted endocrine genes.

From: Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

Extended Data Fig. 5

a) Histogram of contact strengths of loops in human islet Hi-C data18, data shown for all loops called in that study. Vertical line marks the strength of strongest and smallest loop spanning HK1 gene (marked with white arrow in c)). b) Cumulative frequency plot of contacts shown in a), vertical line marks HK1 loop (white arrow in c)), the HK1 loop is in the 86th percentile of all islet HiC loop strengths. c) Heatmap of HiC data shown in a) for region ± 850 kb of HK1 as Fig. 3d, now with additional loops within region marked. White arrow gives principal loop spanning HK1 gene marked in a, b). d–f) HiC data and loops for endocrine cell secreted genes d) INS, e) SST, and f) GCG, shown at same resolution and scale as HK1 locus c) for context.

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