About Enhancer
| Enhancer ID: | E_02_0895 |
| Species: | human |
| Position : | chr2:217918268-217921910   |
| Biosample name: | |
| Experiment class : | Low+High throughput |
| Enhancer type: | Enhancer |
| Disease: | Breast cancer |
| Pubmed ID: | 25248036 |
| Enhancer experiment: | Luciferase Reporter Assay,ChIP-seq,3C,PCR |
| Enhancer experiment description: | The strongest candidate for causality, SNP rs4442975, flanks a transcriptional enhancer that physically interacts with the promoter of IGFBP5. Furthermore, we demonstrate that rs4442975 is associated with allele_x0002_specific FOXA1 binding, chromatin looping and IGFBP5 expression. Our data suggest that the g-allele of rs4442975 confers increased breast cancer susceptibility through reduced IGFBP5 expression. |
About Target gene
| Target gene : | IGFBP5(CC-CKR-4,CD194,CKR4,CMKBR4,ChemR13,HGCN:14099,K5-5) |
| Strong evidence: | 3C |
| Less strong evidence: | -- |
| Target gene experiment description: | This SNP flanks a transcriptional enhancer that physically interacts with the promoter of IGFBP5 (encoding insulin-like growth factor-binding protein 5) and displays allele-specific gene expression, FOXA1 binding and chromatin looping. Evidence suggests that the g-allele confers increased breast cancer susceptibility through relative downregulation of IGFBP5, a gene with known roles in breast cell biology. |
About TF
| TF name : | FOXA1(HNF3A,TCF3A) |
| TF experiment: | qPCR,ChIP-seq |
| TF experiment description: | To assess occupancy of FOXA1 in vivo, we conducted ChIP followed by allele-specific quantitative PCR (qPCR) in the heterozygous BT474 breast cancer cell line. |
About Function
| Enhancer function : | -- |
| Enhancer function experiment: | -- |
| Enhancer function experiment description: |
-- |
About SNP
| SNP ID: | rs4442975 |
Upstream Pathway Annotation of TF
| 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 associated network
The number on yellow line represents the distance between enhancer and
target gene