About Enhancer
| Enhancer ID: | E_00046 |
| Species: | Homo sapiens |
| Position : | chr6:151953109-151955347   |
| Year: | 2016 |
| Title: | Noncoding somatic and inherited single-nucleotide variants converge to promote ESR1 expression in breast cancer. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | Breast cancer |
| PMID: | 27571262 |
| MONDO: | MONDO:0007254 |
| Tissue: | Mammary gland / breast |
| Tissue Ontology ID: | UBERON:0000310 |
| Cell Source: | T-47D |
| CVCL ID: | CVCL_0553 |
| Cell Type: | breast carcinoma epithelial cell |
| Cell Ontology ID: | CL:0000066 |
| Experiment Type: | Variant-to-enhancer functional validation; endogenous enhancer deletion; enhancer-target linkage |
| High Throughput Method: | Tumor whole-genome sequencing; DNase-seq; H3K27ac profiling; transcriptome analysis; POL2 ChIA-PET integration |
| Low Throughput Method: | Luciferase reporter assay; allele-specific GATA3 ChIP-qPCR; CRISPR-Cas9 enhancer deletion; RT-qPCR; chromosome-interaction validation |
About Target Gene
| Target gene : | ESR1 |
About TF
| TF name : | GATA3 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| GATA3 | C-MYB transcription factor network | pid | 87 |
| GATA3 | Calcineurin-regulated NFAT-dependent transcription in lymphocytes | pid | 50 |
| GATA3 | Factors involved in megakaryocyte development and platelet production | reactome | 111 |
| GATA3 | Glucocorticoid receptor regulatory network | pid | 85 |
| GATA3 | IL27-mediated signaling events | pid | 26 |
| GATA3 | Notch signaling pathway | pid | 58 |
| GATA3 | Regulation of nuclear SMAD2/3 signaling | pid | 82 |
| GATA3 | Hs_Endochondral_Ossification_WP474_87977 | wikipathways | 43 |
| GATA3 | Hs_White_fat_cell_differentiation_WP3946_90940 | wikipathways | 30 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
3 found
Expression of Target Genes for the Enhancer