Supplementary Figure 4: Illustration of DACRE.

Transcription factors bind to promoters of genes and start mRNA transcription. Variants in cis-regulatory regions or gene bodies can cause differential allelic regulation effects, which further lead to variation of cell phenotypes, including generation of malignant cells. Samples 1 and 2 illustrate different cis-regulatory mechanisms. a, In sample 1, a DNA variant (black triangle) in the promoter of gene A prevents binding of the transcription factor to the variant allele, causing the variant allele to have lower expression. b, In sample 2, allele-specific methylation (black lollipop) decreases to the expression level of the wild-type allele. c, In sample 3, a DNA variant in the transcription factor (TF) reduces the binding affinity of the TF to the promoters of gene C, causing both alleles to have lower expression. d, In sample 4, DNA variant in gene D directly leads to loss of expression of the variant allele.