Enrichment of significant CNN-SASs in DFREs. (A) Correlation between CNN-SASs and raQTL scores on the raQTL SNPs (blue dots) and non-raQTL SNPs (gray dots). (B) Distribution of raQTL scores in mutation groups binned based on CNN-SASs. The number under each box is the fraction of negative raQTL scores. A negative raQTL score represents the increase in silencing activity. (**) P < 10−10 and (*) P < 10−2 represent the enrichment significance in negative raQTL scores compared with all tested mutations. (C) Correlation between CNN-SASs and eQTL scores in T cells. (D) Fraction of significant CNN-SASs across GWAS and eQTL sets of SNPs. (E) The CNN-SASs of the SNPs in a LD block associated with systemic lupus erythematosus and systemic sclerosis. Rs12631656, a DFRE SNP, is the only one having a significant CNN-SAS score. The table lists the mapping significance levels (i.e., FIMO significance P-values) of the ARID5B and SOX13 binding motifs for the sequences carrying the reference or alternative allele at rs12631656.
