About Enhancer

Enhancer ID: E_01_309
Enhancer symbol: --
Species: Human
Position : chr6:138226720-138233280
Biosample name: B Cell,Monocytes
Experiment class : Low+High throughput
Enhancer type: Enhancer
Disease: Autoimmune Diseases
DO: --
Mesh: D001327
Distance from TSS: >2KB
Pubmed ID:  29440643
Enhancer experiment: CRISPR/Cas9,Hi-C,ChIP-seq
Enhancer experiment description: Recent studies have begun to address mammalian enhancer function using CRISPR-mediated genome editing, including in vivo analysis of mouse genes.To identify enhancers activated by inflammatory stimuli,we analyzed ATAC-seq and ChIP-seq data sets generated in our laboratory (GSE43036, GSE9836926, and GSE104638) for chromatin accessibility, binding of PU.1 and C/EBP (which bind to regulatory elements and help define enhancers in myeloid cells), and induction of acetylation of histone 3 lysine 27 (H3K27-Ac), which indicates enhancer activation, at enhancer peaks after LPS stimulation of primary monocytes.

About Target gene

Target gene : TNFAIP3(A20,AISBL,OTUD7C,TNFA1P2)
Strong evidence: --
Less strong evidence: Hi-C,ChIP-seq
Target gene experiment description: To guide selection of BACs for generation of humanized transgenic mice, we analyzed chromatin conformation, accessibility, and enhancer-related histone marks at the TNFAIP3 locus using our laboratory’s (GSE4303620, GSE10038321 and previously unpublished data, GSE104628) and ENCODE and NIH Roadmap ChIP-seq data (available at genome.ucsc.edu and roadmapepigenomics.org) and Hi-C data.Analysis of pre-existing high-resolution Hi-C (chromatin conformation) data in GM12878 B cells identified a 305 kb topologically associating domain (TAD) flanked by CTCF sites roughly centered around the TNFAIP3 gene body.

About TF

TF name : --
TF experiment: --
TF experiment description: --

About Function

Enhancer function : These findings provide insights into enhancers that regulate human A20 expression to prevent inflammatory pathology and autoimmunity.
Enhancer function experiment: PCR,CRISPR/Cas9
Enhancer function
experiment description:
Collectively, the results show that deletion of the TT>A Enhancer at the TNFAIP3 locus results in an autoimmune/inflammatory phenotype most clearly evident as athritis.

About SNP

SNP ID: --
SNP position: --
SNP experiment: --

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