Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_04551 |
| Species: | Homo sapiens |
| Position : | chr17:37912040-37913027 |
| Year: | 2019 |
| Title: | Functional SNPs in the Human Autoimmunity-Associated Locus 17q12-21. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | autoimmune disease susceptibility at 17q12-21 |
| PMID: | 30678091 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | NALM-6 |
| CVCL ID: | CVCL_0092 |
| Cell Type: | B-lymphoblast |
| Cell Ontology ID: | CL:0017006 |
| Experiment Type: | Disease-variant enhancer reporter assay; GWAS/epigenomic prioritization; site-directed allelic comparison |
| High Throughput Method: | GWAS/fine-mapping; ENCODE DHS/H3K27ac/TF ChIP-seq integration |
| Low Throughput Method: | Luciferase reporter assay; PCR/site-directed mutagenesis |
| Target gene : | NA |
| TF name : | NA |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
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