About Enhancer

Enhancer ID: E_01_408
Enhancer symbol: --
Species: Human
Position : chr2:202120390-202125986
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.

About Target gene

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.

About TF

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.

About Function

Enhancer function : --
Enhancer function experiment: --
Enhancer function
experiment description:
--

About SNP

SNP ID: --
SNP position: --
SNP experiment: --

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer


Enhancer associated SNPs