Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_01046 |
| Species: | Homo sapiens |
| Position : | chr10:105668100-105669000 |
| Year: | 2022 |
| Title: | Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | cutaneous melanoma |
| PMID: | 34605909 |
| MONDO: | MONDO:0005012 |
| Cell Source: | human neural crest cells |
| Cell Type: | neural crest cell |
| Cell Ontology ID: | CL:0011012 |
| Experiment Type: | Regulatory variant functional assay; Enhancer activity assay; TF binding assay; Chromatin interaction assay; Functional perturbation assay |
| High Throughput Method: | Hi-C; epigenomic annotation; tumor expression/eQTL analysis |
| Low Throughput Method: | Luciferase reporter assay; 3C; CRISPR-Cas9 enhancer deletion; MEOX2 binding analysis; RT-qPCR |
| Target gene : | STN1 |
| TF name : | MEOX2 |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01061 | chr10:105664375-105670803 | skin | melanoma tissue | cutaneous malignant melanoma |
| E_01063 | chr10:105664375-105670803 | skin | epithelial cell line | cutaneous malignant melanoma |
| E_01057 | chr10:105668100-105669000 | zone of skin | melanoma cell | cutaneous melanoma |
| E_01058 | chr10:105668100-105669000 | zone of skin | melanoma cell | cutaneous melanoma |
| E_01059 | chr10:105668100-105669000 | zone of skin | melanoma cell | cutaneous melanoma |
| E_01060 | chr10:105668100-105669000 | neural crest | neural crest cell | NA |