Enhancer ID: | E_01_408 | |
Enhancer symbol: | -- | |
Species: | Human | |
Position : | chr2:202120390-202125986 |
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Biosample name: | Human Mammary Epithelial Normal Breast Cell Line | |
Experiment class : | Low+High throughput |
Enhancer type: | Enhancer | |
Disease: | Breast Cancer | |
DO: | DOID:1612 | |
Mesh: | D001943 | |
Distance from TSS: | >2KB | |
Pubmed ID: | 26795348 |
Enhancer experiment: | PCR,Luciferase Reporter Assay,ChIP-seq | |
Enhancer experiment description: | Variants rs3769823, rs3769821, and rs10197246 were chosen to investigate for ability to affect enhancer activity. To create the enhancer constructs, we performed PCR using genomic DNA from T-47D, which is homozygous for risk alleles at all three SNPs, and MCF10A, which is homozygous for neutral alleles, using the following primer pairs. |
Target gene : | CASP8(ALPS2B,CAP4,Casp-8,FLICE,MACH,MCH5) | |
Strong evidence: | -- | |
Less strong evidence: | DNase I Hypersensitivity Assay | |
Target gene experiment description: | To prioritize further, we used expression-quantitative trait locus analysis of RNA sequencing from breast tissues, gene regulation annota_x0002_tions from the ENCODE consortium, and functional assays for differential enhancer activities. Notably, we implicate three regulatory variants at 2q33 that target CASP8 (rs3769823, rs3769821 in CASP8, and rs10197246 in ALS2CR12) as func_x0002_tionally relevant. |
TF name : | STAT3(ADMIO,ADMIO1,APRF,HIES)MYC(MRTLC,bHLHe39,c-Myc,MYC)CTCF(MRD21) | |
TF experiment: | DNase I Hypersensitivity Assay,ChIP-seq | |
TF experiment description: | The first two reside 435 bp apart in a promoter proximal region that exhibits DNAse I hypersensitivity in mammary epithelial and breast cancer cell lines, and binds multiple transcription factors(STAT3, MYC, Pol2, and CTCF) based on ENCODE data (22).Also notable are results from an eQTL study in blood (23),indicating highly significant decreased CASP8 expression associ_x0002_ated with these cFSVs and suggesting the expression signature is also readily observed in blood. |
Enhancer function : | -- |
Enhancer function experiment: | -- |
Enhancer function experiment description: |
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SNP ID: | -- | |
SNP position: | -- |
SNP experiment: | -- |
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