About Enhancer
| Enhancer ID: | E_04705 |
| Species: | Homo sapiens |
| Position : | chr2:202122500-202124030   |
| Year: | 2016 |
| Title: | Discordant Haplotype Sequencing Identifies Functional Variants at the 2q33 Breast Cancer Risk Locus. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | breast cancer susceptibility |
| PMID: | 26795348 |
| MONDO: | MONDO:0004989 |
| Tissue: | breast |
| Tissue Ontology ID: | UBERON:0000310 |
| Cell Source: | T-47D |
| CVCL ID: | CVCL_0553 |
| Cell Type: | epithelial cell |
| Cell Ontology ID: | CL:0000066 |
| Experiment Type: | Enhancer activity assay; Functional variant assay; Genetic association study; eQTL analysis |
| High Throughput Method: | Targeted discordant-haplotype sequencing; Strand-specific RNA-seq/eQTL analysis; ENCODE regulatory data integration |
| Low Throughput Method: | Dual-Luciferase Reporter Assay; Genotyping; Sanger sequencing; RT-qPCR |
About Target Gene
| Target gene : | CASP8 |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg19)
4 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04675 | chr2:202120390-202125986 | blood / hematopoietic system | malignant cell | Breast Cancer |
| E_04676 | chr2:202120390-202125986 | blood / hematopoietic system | malignant cell | Breast Cancer |
| E_04677 | chr2:202120390-202125986 | blood / hematopoietic system | malignant cell | Breast Cancer |
| E_04704 | chr2:202122500-202124030 | breast | mammary gland epithelial cell | breast cancer susceptibility |
Expression of Target Genes for the Enhancer