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. 2020 Feb 3;16(2):e1007616. doi: 10.1371/journal.pcbi.1007616

Fig 5. QTL network.

Fig 5

(A) Network showing one of the putative key regulators for MS, dSNP rs175714 on chromosome 14. DSNP rs175714 is associated with differential TF binding of the TF MAZ, one of the top-associated loci in the KKNMS GWAS, where no significant transcriptional effect could be identified in the post hoc analysis. Edges represent the associations between dSNPs and chromatin features with or without treatment, cell lines, top-level tissue group, CpGs, and genes through dummy nodes identified either using DeepWAS or QTLs. Dummy nodes are used for preserving all entities of dSNP and QTL associations. Edges highlighted in red show the DeepWAS results for MAZ, in yellow show the eQTL connections illustrated in B, and shades refer to downstream QTL results shown in B. (B) Box plot of GTEx whole blood eQTL data showing the relationship between PSAP gene expression and dSNP rs11000015 genotype. (C-D) Chromatin feature probabilities for the significant FU of the dSNP sequences carrying the reference (black) and alternative (gray) allele.