About Enhancer
| Enhancer ID: | E_02_0897 |
| Species: | human |
| Position : | chr10:6064657-6065397   |
| Biosample name: | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer |
| Disease: | Autoimmune diseases |
| Pubmed ID: | 25214635 |
| Enhancer experiment: | EMSA,Luciferase Reporter Assay |
| Enhancer experiment description: | We first tested for enhancer activity by introducing ~200 bp fragments centered around each SNP (Fig. 6A) into a luciferase reporter vector, driven by SV40 or IL2RA minimal promoters, and transfecting them into Jurkat T cells.The higher enhancer function of the T allele was dependent on activation of the Jurkat cells (Fig. 6C), suggesting that enhancer activity is boosted upon cell activation by interactions affected by the single base change at rs12251836. |
About Target gene
| Target gene : | IL2RA(CD25,IDDM10,IL2R,IMD41,TCGFR,p55) |
| Strong evidence: | -- |
| Less strong evidence: | GWAS |
| Target gene experiment description: | Together, these results point to functional effects of at least two independent associations in the IL2RA locus, which may have balancing effects. We surmise that the associated variant rs12251836 is mainly active in acutely triggered T effector cells, but not in Treg cells, since IL2RA mRNA in unstimulated CD4+ T cells would predominantly come from CD25hi Treg cells, and this association was not apparent in unstimulated cells. |
About TF
| TF name : | YY1(DELTA,GADEVS,INO80S,NF-E1,UCRBP,YIN-YANG-1) |
| TF experiment: | EMSA |
| TF experiment description: | The allele-specific binding of YY1 was also confirmed by EMSA. |
About Function
| Enhancer function : | -- |
| Enhancer function experiment: | -- |
| Enhancer function experiment description: |
-- |
About SNP
| SNP ID: | rs12251836 |
Upstream Pathway Annotation of TF
| 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 associated network
The number on yellow line represents the distance between enhancer and
target gene