Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_00512
Species: Homo sapiens
Position : chr2:202122995-202124526
Year: 2016
Title: Discordant Haplotype Sequencing Identifies Functional Variants at the 2q33 Breast Cancer Risk Locus
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Normal
Disease Name: --
PMID:  26795348
MONDO:
Tissue: Breast
Tissue Ontology ID: UBERON:0000310
Cell Source: HMEC
CVCL ID: CVCL_U869
Cell Type: mammary epithelial cell
Cell Ontology ID: CL:0000066
Experiment Type: Enhancer activity assay, TF binding assay, eQTL analysis, Genetic association study
High Throughput Method: Targeted DNA sequencing, Strand-specific RNA-seq, ChIP-seq
Low Throughput Method: Luciferase reporter assay, RT-RT-qPCR, Sanger sequencing
About Target Gene
Target gene : CASP8
About TF
TF name : STAT3; MYC; CTCF
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
Enhancer Associated Network
Overlapping Enhancers (hg19) 8 found
Enhancer ID Position Tissue Cell Disease
E_00534 chr2:202122200-202123730 Breast breast epithelial cell --
E_00549 chr2:202122500-202124030 Blood B cell mantle cell lymphoma
E_00550 chr2:202122500-202124030 Breast breast epithelial cell --
E_00951 chr2:202122994-202122996 Breast breast epithelial cell --
E_00513 chr2:202122995-202124526 Breast breast epithelial cell --
E_00514 chr2:202122995-202124526 Breast breast carcinoma cell breast carcinoma
E_00515 chr2:202122995-202124526 Breast breast carcinoma cell breast carcinoma
E_00952 chr2:202123429-202123431 Breast breast carcinoma cell breast carcinoma
Expression of Target Genes for the Enhancer