Fig. 1

Characterisation of MLH1 promoter and functional validation of the epimutations. A UCSC screenshot at chr3:36,991,969–36,994,439 showing the ATAC and H3K27ac enrichment signal at the MLH1 promoter in each sample. Green and purple tracks represent control and epimutant (CME) cells, respectively. Below the peak profiles, the consensus peak region is indicated in grey. Normalised counts at the MLH1 promoter for ATAC (B) and H3K27ac (D) peaks. Wilcoxon p value = 0.13. Proportion of ATAC (C) and H3K27ac (E) reads harbouring each allele at MLH1 c.-93 (chr3:36,993,455). F Allelic expression of two common MLH1 (left) and EPM2AIP1 (right) SNPs in the heterozygous samples