Figure 2.

Schematic diagram of the action mechanism employed by non-coding SNPs. (a) The SNP rs3824662 allele A increases chromatin accessibility by inducing GATA3 expression, promoting the binding of GATA3 with the CRLF promoter, and ultimately forming a chromatin loop. (b) The NTN4 enhancer risk variant rs11836367 binds to the TF GATA3 to regulate NTN4 expression, ultimately promoting breast carcinoma initiation and progression. (c) Enhancer SNP rs7959129 risk allele G interacts with promoter SNP rs6192603 risk allele G contributing to ATF1 expression by binding TFs GATA3 and SP1. (d) The risk allele rs11986220 and higher methylation at –10 Kb synergistically function to confer a greater risk of tumor; however, when −20 Kb is hypomethylated, the function of the risk SNP is inhibited by the enhancer-blocking insulator loop mediated by CTCF. (e) The risk variant rs11655237 in LINC00673 creates a miR-1231–binding site that interferes with the expression of LINC00673 and contributes to pancreatic cancer susceptibility.