Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_04422 |
| Species: | Homo sapiens |
| Position : | chr2:136608729-136608757 |
| Year: | 2011 |
| Title: | The -14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1ζ± binding site and increases lactase promoter activity. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 21327791 |
| Tissue: | colon |
| Tissue Ontology ID: | UBERON:0001155 |
| Cell Source: | Caco-2 |
| CVCL ID: | CVCL_0025 |
| Cell Type: | enterocyte-like epithelial cell line |
| Experiment Type: | Enhancer activity assay; TF binding assay |
| Low Throughput Method: | Transient transfection; Luciferase reporter assay; deletion analysis; EMSA; DNA footprinting |
| Target gene : | LCT |
| TF name : | HNF1A |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| HNF1A | FOXA2 and FOXA3 transcription factor networks | pid | 45 |
| HNF1A | IL6 | netpath | 85 |
| HNF1A | Presenilin action in Notch and Wnt signaling | pid | 46 |
| HNF1A | Regulation of gene expression in beta cells | reactome | 17 |
| HNF1A | Maturity onset diabetes of the young | kegg | 25 |
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04423 | chr2:136608729-136608757 | colon | enterocyte-like epithelial cell line | NA |