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Chunk #20 — Results — Integration with functional genomic data

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International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci.
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(r2 > 0.6)genomic coordinate risk locus (hg19)predicted genes in risk locusSNPs in LD with CADD scores > 12.37SNPs in LD with RegulomeDB scores < 5Chromatin state analysis (Roadmap Epigenomics) in neuronal cell lines/tissuesaeQTLHi-C in 3 neuronal tissue/ cell line datasets, GSE87112 EUA Allrs3451785220chr6: 157,780,424–157,801,753ZDHHC14 (upstream of TSS)rs35262389 = 15.28rs9348095 = 1 (TSS site)Transcriptional active chromatin at TSSNoneYes, with downstream elementsrs936461112chr6: 162,157,139–162,168,506PARK2 (intronic)NoneNoneOverall quiecent, some enhancer functionNoneYes, intronic within the same intron Menrs5718486625chr19: 53,988,841–53,990,834 ZNF813 NoneNoneWeak transcriptionNoneNoners14875732110chr1: 15,427,801–15,449,791KAZN and TMEM51-AS1NoneNoneNoneSignificant interaction with regions further upstream of KAZN AFR Allrs11553997861chr13: 55,652,129–55,759,209 LINC02335, MIR5007, TUC338 NoneNoneOverall silenced chromatin (score of 15), some SNPs map to loci with weak transcription or enhancer functionNoneInteraction between risk locus and upstream region harboring LINC00458, MIR1297, and LINC00558 as well as downstream region harboring HNF4GP1 Menrs142174523237chr6: 31,257,622–31,319,815 (MHC locus) LINC02571, HLA-B NonemanybOverall PolyComb repressed chromatin, heterochromatin 16 c NoneGWAS in females of European and African ancestry did not identify genome-wide significant hitsTSS transcriptional start site, eQTL expression quantitative trait locus (in 28 neuronal tissue/ cell lines from CommonMind Consortium, BRAINEAC or GTEx v7)aIn neuronal cell lines/tissues E053, E054, E067, E068, E069, E070, E071, E072, E073, E074, E081, E082, E125bSee http://fuma.ctglab.nl/browse 30–32 for a visualization of these resultscATP6V1G2, C4A,