Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_01336 |
| Species: | Homo sapiens |
| Position : | chr2:217994794-217995294 |
| Year: | 2021 |
| Title: | Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | breast carcinoma |
| PMID: | 34146516 |
| MONDO: | MONDO:0004989 |
| Tissue: | breast |
| Tissue Ontology ID: | UBERON:0000310 |
| Cell Source: | MCF-7 |
| CVCL ID: | CVCL_0031 |
| Cell Type: | malignant cell |
| Cell Ontology ID: | CL:0001064 |
| Experiment Type: | Enhancer activity assay; Regulatory variant functional assay; Functional perturbation assay; TF binding assay |
| High Throughput Method: | ChIP-seq; RNA-seq; DNase-seq/epigenomic profiling |
| Low Throughput Method: | Luciferase reporter assay; CRISPR-Cas9 enhancer perturbation; RT-qPCR |
| Target gene : | IGFBP5 |
| TF name : | FOXA1 |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| FOXA1 | AndrogenReceptor | netpath | 167 |
| FOXA1 | Direct p53 effectors | pid | 141 |
| FOXA1 | FOXA1 transcription factor network | pid | 45 |
| FOXA1 | FOXA2 and FOXA3 transcription factor networks | pid | 45 |
| FOXA1 | Hs_Endoderm_Differentiation_WP2853_88152 | wikipathways | 62 |
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01337 | chr2:217994794-217995294 | breast | malignant cell | breast carcinoma |