Fig. 5

Cumulative results for the thirty ENCODE samples. A Distribution of ASB and non-ASB SNPs in different genome regions annotated by SnpEff. B Distribution of the ASB and non-ASB SNPs in cis-regulatory elements (cCREs). C Pearson correlations of shared SNPs of different samples. D Motif enrichment in different samples. The color reveals the fold change in the number of ASB SNPs enriched in motifs and the mean value of controls. E Pearson correlations of allele ratio and PWM score difference of the two alleles. F Consistency of disrupted motif positions with information content (IC). If the frequency of one SNP’s disrupted location is consistent (either high or low) with its IC, it is ‘consistent’. Higher IC indicates that the nucleotide at that position is more conserved and important. Specifically, information contents and frequencies above the mean values were classified as high, while those below the mean values were classified as low