About Enhancer
| Enhancer ID: | E_04675 |
| Species: | Homo sapiens |
| Position : | chr2:202120390-202125986   |
| 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 |
| PMID: | 26795348 |
| MONDO: | MONDO:0007254 |
| Tissue: | blood / hematopoietic system |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | Human Mammary Epithelial Normal Breast Cell Line |
| Cell Type: | malignant cell |
| Cell Ontology ID: | CL:0001064 |
| Experiment Type: | Enhancer activity assay; TF-binding/chromatin assay; Genetic-variant functional analysis; Disease-associated enhancer analysis |
| High Throughput Method: | ChIP-seq |
| Low Throughput Method: | Luciferase reporter assay; Reporter assay; ChIP-qPCR/ChIP |
About Target Gene
| Target gene : | CASP8 |
About TF
| TF name : | CTCF |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| CTCF | Activation of anterior HOX genes in hindbrain development during early embryogenesis | reactome | 120 |
| CTCF | TGF_beta_Receptor | netpath | 220 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
4 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| 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 |
| E_04705 | chr2:202122500-202124030 | breast | epithelial cell | breast cancer susceptibility |
Expression of Target Genes for the Enhancer