Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_00514 |
| 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: | Disease |
| Disease Name: | breast carcinoma |
| PMID: | 26795348 |
| MONDO: | MONDO:0006120 |
| Tissue: | Breast |
| Tissue Ontology ID: | UBERON:0000310 |
| Cell Source: | T-47D |
| CVCL ID: | CVCL_0553 |
| Cell Type: | breast carcinoma 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 |
| Target gene : | CASP8 |
| TF name : | STAT3; MYC; CTCF |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|
| 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_00512 | chr2:202122995-202124526 | Breast | mammary epithelial cell | -- |
| E_00513 | chr2:202122995-202124526 | Breast | breast epithelial cell | -- |
| E_00515 | chr2:202122995-202124526 | Breast | breast carcinoma cell | breast carcinoma |
| E_00952 | chr2:202123429-202123431 | Breast | breast carcinoma cell | breast carcinoma |