Fig. 5

QTLs located in GWAS gene CDH13 show allele-specific TCF21 binding, chromatin accessibility, and chromosomal looping. aCDH13 locus, showing bQTL rs7198036 and ca/clQTL rs12444113. Bar graphs show allelic enrichments of b chromatin accessibility at rs12444113 and c TCF21 binding at rs7198036 identified by allele-specific qPCR, d mRNA levels, and e chromatin accessibility at the TSS region of CDH13 suppressed by CRISPRi-KRAB targeting at rs12444113. f Diagram (top) shows the chromosomal loops between rs12444113 and TSS/TES of CDH13. 3C-PCR (bottom) shows the differential chromosomal contacts from rs12444113 to TSS and TES of CDH13. Pre-post: allele frequencies in the QTL regression data. Shown are means ± SD; n = 3; ****P < 0.0001; ***P < 0.001; **P < 0.01; *P < 0.05