Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_04169 |
| Species: | Homo sapiens |
| Position : | chr10:6091181-6091380 |
| Year: | 2014 |
| Title: | Intersection of population variation and autoimmunity genetics in human T cell activation. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | type 1 diabetes mellitus |
| PMID: | 25214635 |
| MONDO: | MONDO:0005147 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | Primary human CD4+ T cells from healthy donors for activation/eQTL mapping |
| Cell Type: | CD4-positive T cell |
| Cell Ontology ID: | CL:0000624 |
| Experiment Type: | Activation-dependent autoimmune-risk enhancer; eQTL/GWAS fine-mapping; allele-specific YY1 binding and enhancer activity |
| High Throughput Method: | RNA-seq; activation eQTL mapping; GWAS fine-mapping |
| Low Throughput Method: | Allele-specific luciferase reporter; EMSA; DNA pull-down; YY1 transactivation assay |
| Target gene : | IL2RA |
| TF name : | YY1 |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| YY1 | Activation of anterior HOX genes in hindbrain development during early embryogenesis | reactome | 120 |
| YY1 | DNA Damage Recognition in GG-NER | reactome | 38 |
| YY1 | E2F transcription factor network | pid | 77 |
| YY1 | mTOR signaling pathway | pid | 66 |
| YY1 | Notch-mediated HES/HEY network | pid | 48 |
| YY1 | Notch | netpath | 76 |
| YY1 | Notch signaling pathway | pid | 58 |
| YY1 | p53 pathway | pid | 59 |
| YY1 | Signaling events mediated by HDAC Class I | pid | 89 |
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04191 | chr10:6091180-6091381 | blood | T cell | autoimmune disease |
| E_04170 | chr10:6091181-6091380 | blood | CD4-positive T cell | multiple sclerosis |
| E_04192 | chr10:6091181-6091380 | blood | T cell | type 1 diabetes mellitus |
| E_04193 | chr10:6091181-6091380 | blood | T cell | multiple sclerosis |
| E_04203 | chr10:6091181-6091381 | blood | T cell | NA |
| E_04206 | chr10:6091181-6091381 | blood | T cell | NA |
| E_04207 | chr10:6091181-6091381 | blood | T cell | NA |
| E_04208 | chr10:6091181-6091381 | blood | T cell | NA |