About Enhancer

Enhancer ID: E_01_416
Enhancer symbol: --
Species: Human
Position : chr1:230293530-230305966
Biosample name: Hep G2
Experiment class : Low+High throughput
Enhancer type: Enhancer
Disease: --
DO: --
Mesh: --
Distance from TSS: >2KB
Pubmed ID:  26817450
Enhancer experiment: ChIP-seq,Luciferase Reporter Assay,EMSA
Enhancer experiment description: EMSA and luciferase assays were used to validate the allele specific binding and to test the enhancer activity of the regulatory element harboring the AS-SNP rs4846913 as well as the neighboring rs2144300 which are in high LD with rs4846914.

About Target gene

Target gene : GALNT2(GalNAc-T2)
Strong evidence: --
Less strong evidence: GWAS
Target gene experiment description: Using luciferase assays we found that rs4846913 and the neighboring rs2144300 displayed allele specific enhancer activity. We propose that an inhibitor binds preferentially to the rs4846913-C allele with an inhibitory boost from the synergistic binding of other TFs at the neighboring SNP rs2144300. These events influence the transcription level of GALNT2.

About TF

TF name : ZBTB3(ZBTB3)
TF experiment: EMSA,Luciferase Reporter Assay
TF experiment description: Using luciferase assays we found that rs4846913 and the neighboring rs2144300 displayed allele specific enhancer activity. We propose that an inhibitor binds preferentially to the rs4846913-C allele with an inhibitory boost from the synergistic binding of other TFs at the neighboring SNP rs2144300.

About Function

Enhancer function : --
Enhancer function experiment: --
Enhancer function
experiment description:
--

About SNP

SNP ID: rs4846913,rs2144300
SNP position: 230294715,230294916
SNP experiment: ChIP-seq,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