Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_01326 |
| Species: | Homo sapiens |
| Position : | chr8:118183060-118260108 |
| Year: | 2024 |
| Title: | Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic ζ±-cell survival and function. |
| Genome Build: | hg19 |
| Enhancer Type: | Super-enhancer |
| Condition: | Disease |
| Disease Name: | type 2 diabetes mellitus |
| PMID: | 38661000 |
| MONDO: | MONDO:0005148 |
| Tissue: | islet of Langerhans |
| Tissue Ontology ID: | UBERON:0000006 |
| Cell Source: | EndoC-betaH3 |
| CVCL ID: | CVCL_IS72 |
| Cell Type: | pancreatic beta cell |
| Cell Ontology ID: | CL:0000169 |
| Experiment Type: | Super-enhancer characterization; Chromatin interaction assay; Functional perturbation assay |
| High Throughput Method: | ATAC-seq; H3K27ac ChIP-seq; RNA-seq; Hi-C; promoter capture Hi-C; ChIA-PET; eQTL analysis |
| Low Throughput Method: | CRISPR-Cas9 regional deletion; RT-qPCR; Sanger sequencing; glucose-stimulated insulin secretion assay; CRISPR-Cas9 |
| Target gene : | EXT1 |
| TF name : | NA |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
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