Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_03692 |
| Species: | Homo sapiens |
| Position : | chr2:73956813-73957241 |
| Year: | 2022 |
| Title: | Discovery and Functional Characterization of Two Regulatory Variants Underlying Lupus Susceptibility at 2p13.1. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | systemic lupus erythematosus |
| PMID: | 35741778 |
| MONDO: | MONDO:0007915 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | B Cell |
| Cell Type: | B cell |
| Cell Ontology ID: | CL:0000236 |
| Experiment Type: | Enhancer activity assay, TF binding assay, Chromatin interaction assay; Enhancer activity assay; TF binding assay; Chromatin interaction assay; Disease-variant functional analysis |
| High Throughput Method: | Hi-C; eQTL analysis; GWAS |
| Low Throughput Method: | Luciferase Reporter Assay, ChIP-RT-qPCR; Luciferase reporter assay; ChIP-qPCR; ChIP; Western blot; Allele-specific reporter assay |
| Target gene : | DGUOK |
| TF name : | ARID3A |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| ARID3A | Direct p53 effectors | pid | 141 |
| ARID3A | TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest | reactome | 13 |
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03746 | chr2:73956813-73957241 | blood | lymphoblastoid cell line | NA |