Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_01043 |
| Species: | Homo sapiens |
| Position : | chr10:114758249-114758449 |
| Year: | 2014 |
| Title: | Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | type 2 diabetes mellitus |
| PMID: | 24413736 |
| MONDO: | MONDO:0005148 |
| Tissue: | pancreas |
| Tissue Ontology ID: | UBERON:0001264 |
| Cell Source: | primary human pancreatic islets |
| Cell Type: | pancreatic endocrine cell |
| Cell Ontology ID: | CL:0008024 |
| Experiment Type: | Disease-risk enhancer mapping; TF binding; allele-specific enhancer activity |
| High Throughput Method: | H3K27ac/H3K4me1 ChIP-seq; islet TF ChIP-seq; RNA-seq; chromatin-domain mapping |
| Low Throughput Method: | allele-specific DNA-binding and enhancer-reporter assays |
| Target gene : | TCF7L2 |
| TF name : | NKX2-2 |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| NKX2-2 | Regulation of gene expression in beta cells | reactome | 17 |
| NKX2-2 | Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells | reactome | 5 |
| NKX2-2 | Maturity onset diabetes of the young | kegg | 25 |
| NKX2-2 | Hs_Dopaminergic_Neurogenesis_WP2855_87239 | wikipathways | 19 |