Figure 5
From: Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
Complex cis -regulation of BRCA2 gene expression. RefSeq genes mapped to the region surrounding BRCA2, position of regulatory features according to Ensembl, and position of DAE marker SNP rs144848 (black star) and functional SNPs (numbered). Haplotypes associated with low and high expression levels are shown with the corresponding binding of transcription factors. Linkage disequilibrium (r2) for CEU phased genotype data from HapMap (Data release24/phaseII). CEU, Utah residents with Northern and Western European ancestry from the CEPH collection; SNP, single nucleotide polymorphism.