Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_01148 |
| Species: | Homo sapiens |
| Position : | chr1:116506181-116506381 |
| Year: | 2024 |
| Title: | rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | autoimmune disease |
| PMID: | 37994973 |
| MONDO: | MONDO:0007179 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | THP-1 |
| CVCL ID: | CVCL_0006 |
| Cell Type: | malignant cell |
| Cell Ontology ID: | CL:0001064 |
| Experiment Type: | Enhancer activity assay, TF binding assay, Chromatin interaction assay, Functional perturbation assay; Disease-variant functional analysis |
| High Throughput Method: | Hi-C; GWAS |
| Low Throughput Method: | Luciferase Reporter Assay, CRISPR Knockout, ChIP-RT-qPCR, EMSA, RT-RT-qPCR |
| Target gene : | CD58 |
| TF name : | ZNF35 |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
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