About Enhancer
| Enhancer ID: | E_04153 |
| 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-positive T cells |
| Cell Type: | CD4-positive alpha-beta T cell |
| Experiment Type: | Enhancer activity assay; TF binding assay; Functional variant assay |
| High Throughput Method: | ENCODE and Roadmap epigenomic data integration |
| Low Throughput Method: | Luciferase Reporter Assay; EMSA/supershift; H3K4me1 ChIP-qPCR; RT-qPCR; Flow cytometry; Genotyping; Reporter assay |
About Target Gene
| Target gene : | NA |
About TF
| TF name : | TWIST1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| TWIST1 | HIF-2-alpha transcription factor network | pid | 34 |
| TWIST1 | Notch-mediated HES/HEY network | pid | 48 |
| TWIST1 | Hs_Endochondral_Ossification_WP474_87977 | wikipathways | 43 |
| TWIST1 | Hs_miR-509-3p_alteration_of_YAP1-ECM_axis_WP3967_91491 | wikipathways | 14 |
| TWIST1 | Hs_G13_Signaling_Pathway_WP524_72112 | wikipathways | 18 |
| TWIST1 | Hs_Transcription_factor_regulation_in_adipogenesis_WP3599_88581 | wikipathways | 9 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
6 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04152 | 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_04200 | chr1:67739940-67741075 | blood | CD4-positive 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 |
Expression of Target Genes for the Enhancer