Fig. 3

Motif analysis exemplified by ENCFF001HIA. A Histogram of the number of ASB SNPs and control non-ASB SNPs in the motifs. The number of ASB SNPs enriched in the motifs is shown as the red line, and the mean value of the control SNPs is shown as the blue line. B Scatter plot of the reference allele ratio (Ref allele ratio) and motif score change of the ASB SNPs (ASB, n = 46) and non-ASB SNPs (non-ASB, n = 344). The allele ratio is defined as the ratio of reads mapped to the reference allele, while the motif PWM score change is calculated as the PWM score of the reference allele minus that of the alternative allele. The kernel density plot and the marginal density plot are also shown in the figure. In the kernel density plot, denser contour lines indicate higher data density. The marginal density plot shows the distribution of ASB and non-ASB SNPs in motif score change and reference allele ratio separately. (C) Position-specific correlation of motif-disrupted SNP frequency with motif conservation between the ASB and non-ASB SNPs, as measured by the information content (IC), also known as the bit score (Bits)