However, Suter et al. 37 showed contradictory results that A-allele of this SNP is associated with lower promoter methylation and higher transcription of MLH1. Our results suggested that TFAP4 preferentially binds to T-allele of the rs1800734 but does not change promoter accessibility and transcription of MLH1. Analysis of the SYSCOL cohort strengthened the findings in the cell lines (Supplementary Fig. 3a) and identified a new gene target DCLK3 in the MSS patients (Fig. 2e). Here, TFAP4 is linked to Marinesco-Sjogren syndrome.