About Enhancer

Enhancer ID: E_01_182
Enhancer symbol: --
Species: Human
Position : chr10:6064657-6065397
Biosample name: T Cell
Experiment class : Low throughput
Enhancer type: Enhancer
Disease: Autoimmune Diseases
DO: --
Mesh: D001327
Distance from TSS: >2KB
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
SNP position: 6091281
SNP experiment: Luciferase Reporter Assay,EMSA

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer


Enhancer associated SNPs