Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_01945 |
| Species: | Homo sapiens |
| Position : | chr12:12874700-12875275 |
| Year: | 2021 |
| Title: | Lupus Susceptibility Region Containing CDKN1B rs34330 Mechanistically Influences Expression and Function of Multiple Target Genes, Also Linked to Proliferation and Apoptosis. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | systemic lupus erythematosus |
| PMID: | 33982894 |
| MONDO: | MONDO:0007915 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | Primary T cells |
| Cell Type: | T cell |
| Cell Ontology ID: | CL:0000084 |
| Experiment Type: | Enhancer activity assay, Chromatin interaction assay, Functional perturbation assay; Enhancer activity assay; Endogenous enhancer perturbation; Disease-variant functional analysis |
| High Throughput Method: | eQTL analysis; GWAS |
| Low Throughput Method: | Luciferase Reporter Assay, 3C-RT-qPCR, CRISPR Knockout, CRISPRi, RT-RT-qPCR; CRISPR-Cas9 endogenous deletion/editing; ChIP; Allele-specific reporter assay |
| Target gene : | GPR19 |
| TF name : | NA |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
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