Skip to main content
. Author manuscript; available in PMC: 2014 Aug 14.
Published in final edited form as: Nat Genet. 2013 Nov 10;46(1):61–64. doi: 10.1038/ng.2826

Figure 1. Epigenome annotation of variants from genome sequencing identifies a shared variant in a putative enhancer element.

Figure 1

Variant identified by whole genome sequencing, plus an additional five variants in patients with pancreatic agenesis map to a 25 Kb region downstream of PTF1A, which contains a single candidate pancreatic progenitor-specific enhancer within a highly conserved 400bp element. The top panel depicts ChIP-seq density plots for the enhancer mark H3K4me1, the second and third show occupancy for FOXA2 and PDX1. A broad panel of embryonic and adult human tissues do not show active chromatin marks in this region (Supplementary Figure 5). Vertebrate Conservation and mammalian conservation tracks (as measured by the GERP Score) tracks illustrate the high conservation of this element. The red line depicts the approximate location of a 7.6 kb deletion in this region, and red arrows indicate point mutations, using the final 3 digits from the hg19 coordinates as labels (referring to positions 23508305A>G, 23508363A>G, 23508365A>G, 23508437A>G and 23508446A>C on chromosome 10 respectively).