Fig. 5

Examples of GWAS SNPs located in dREs. The dREs SNPs (a) rs1839563 and (b) rs3806624 are tightly linked to the SNPs associated with the CLL-related traits, such as haematological cancers or colorectal cancer. Bar graphs show the comparison of allele frequencies between CLL and control samples. The flanking sequences of the example SNPs are displayed, along which the example SNPs are implied by a box with dashes. For a SNP, the black allele is the one enriched in CLL (i.e., CLL-associated), while the grey allele is the one associated with normal samples. To show the TFBS change caused by CLL-associated substitutions, the TFBSs mapped to the black alleles, but not to the grey alleles, are presented for the gained-dRE SNPs (a), and the TFBSs mapped to the grey alleles but not black alleles are displayed in the case of the lost-dRE SNPs (b). Two additional examples are shown in Additional file 1: Figure S14 and S15