Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_04200 |
| Species: | Homo sapiens |
| Position : | chr1:67739940-67741075 |
| Year: | 2016 |
| Title: | An ankylosing spondylitis-associated genetic variant in the IL23R-IL12RB2 intergenic region modulates enhancer activity and is associated with increased Th1-cell differentiation. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | ankylosing spondylitis |
| PMID: | 26916345 |
| MONDO: | MONDO:0005306 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | primary CD4+ T cells/Th1 phenotyping |
| Cell Type: | CD4-positive T cell |
| Cell Ontology ID: | CL:0000624 |
| Experiment Type: | Genetic association/fine-mapping; allele-specific enhancer activity; chromatin-state analysis; allele-specific DNA-binding assay; T-cell phenotyping |
| High Throughput Method: | Genetic association/conditional fine-mapping; epigenomic data integration |
| Low Throughput Method: | Luciferase reporter assay; EMSA/gel-shift assay; H3K4me1 ChIP-qPCR/epigenetic validation; flow cytometry |
| Target gene : | NA |
| TF name : | NA |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04152 | chr1:67739940-67741075 | blood | CD4-positive alpha-beta T cell | ankylosing spondylitis |
| E_04153 | chr1:67739940-67741075 | blood | CD4-positive alpha-beta T cell | ankylosing spondylitis |
| E_04168 | chr1:67739940-67741075 | blood | CD4-positive alpha-beta T cell | ankylosing spondylitis |
| E_04205 | chr1:67739940-67741075 | blood | CD4-positive T cell | ankylosing spondylitis |
| E_04210 | chr1:67739940-67741075 | blood | CD4-positive alpha-beta T cell | ankylosing spondylitis |
| E_04214 | chr1:67739940-67741075 | blood / hematopoietic system | T-helper 1 cell | ankylosing spondylitis |