Chunk #24 — Transcriptional effects of enhancer variants

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Enhancer variants: evaluating functions in common disease.

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c-MYC 3CColo205 and LS174TAllele-specific luciferase activity, allele-specific ChIPColorectal cancerWright et al. [39]rs6983267rs6983267 c-MYC 3CDLD1 and HCT116Allele-specific ChIP, allele-specific expressionColorectal cancerTuupanen et al. [36]rs67491583rs67491583 c-MYC Nearest geneHeLaBinding motif disruption, allele-specific ChIP, allele-specific luciferase activityProstate cancerWasserman et al. [35]rs6983267rs6983267 c-MYC Nearest geneProstate tissue (mouse)Allele-specific activity, LacZ enhancer assay (mouse)Coronary artery diseaseHarismendy et al. [31]rs10757278rs10811656/ rs10757278 CDKN2B, CDKN2BAS, IFNA21, MTAP 3C and FISH (IFNA21)HUVECBinding motif disruption, allele-specific ChIPCoronary heart diseaseMiller et al. [29]rs12190287rs12190287 TCF21 Nearest gene, eQTL geneHCASMCBinding motif disruption, allele-specific luciferase activity, EMSA, allele-specific ChIP and allele-specific expressionFetal hemoglobin levelBauer et al. [28]rs1427407, rs7606173rs1427407, rs7606173 BCL11A 3CPrimary human erythroblastsBinding motif disruption, allele-specific ChIP, allele-specific expression, LacZ enhancer assay (mouse), deletion by TALENMultiple sclerosisAlcina et al. [27]rs658115rs10877013 FAM119B, AVIL, TSFM, TSPAN31 eQTLLCLs and monocytesAllele-specific luciferase activity, eQTLObesitySmemo et al. [30]rs9930506NA IRX3 4C-seq, 3C, ChIA-PET, Hi-CWhole mouse embryo and adult mouse braineQTL mappingProstate cancerHazelett et al. [6]rs5945619rs4907792 NUDT1 Nearest gene, eQTL geneLNCaPAllele-specific luciferase activity, eQTLProstate cancerHazelett et al. [6]rs10486567rs10486567 JAZF1 Nearest geneLNCaPAllele-specific luciferase activity, binding motif disruptionQT intervalKapoor et al. [32]rs12143842rs7539120 NOS1AP eQTL gene, genetic associationCardiac tissuesAllele-specific luciferase activity, eQTL, enhancer assay (zebrafish embryos)Restless leg syndromeSpieler et al. [37]rs12469063rs13469063 MEIS1 PreSTIGE prediction method, ChIA-PET, Hi-CTelencephalonAllele-specific expression of reporter gene in zebrafish, Allele-specific LacZ (mouse),