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Chunk #28 — Results — Application to Crohn’s disease GWAS

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Functional mapping and annotation of genetic associations with FUMA.
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Hi-C in liver: CCL1, CCL2, CCL7, CCL8, CCL11, and CCL13. Additionally, prioritized genes include 11 cytokines (IL4, IL5, IL10, IL19, IL23R, IL24, IL27, IL33, IL1RL1, IL18R1, and IL18RAP) wherein IL18R1 and IL18RAP are also mapped by eQTLs in whole blood and IL23R and IL27 are also mapped by deleterious coding SNPs which further supports the involvement of these cytokine genes in CD. The role of these chemokines and cytokines in inflammatory disease has been widely studied48 and yet, chromatin interaction mapping identified additional relevant candidates from the risk loci. The prioritized 276 genes showed enrichment in 123 canonical pathways such as immune system and cytokine related pathways which are known to be highly relevant to CD49 (Supplementary Data 13).