About Enhancer

Enhancer ID: E_01_402
Enhancer symbol: --
Species: Human
Position : chr5:110175120-110177136
Biosample name: Blood
Experiment class : Low+High throughput
Enhancer type: Enhancer
Disease: Heart Failure
DO: --
Mesh: D006333
Distance from TSS: >2kb
Pubmed ID:  27149122
Enhancer experiment: Luciferase Reporter Assay,ChIP-seq
Enhancer experiment description: To experimentally test the effect of rs9885413 on enhancer activity, the 100 bp region flank_x0002_ing the SNP (50 bp on either side) was cloned into a reporter vector and transfected intoHEK293 cells expressing NHLH1 (S1 Text). Luciferase activity measured after 24 hours was 4-fold higher with a construct corresponding to the risk allele as compared to the wild-type allele (S4 Fig, P < 0.001), indicating that the risk allele of rs9885413 substantially increases enhancer activity.

About Target gene

Target gene : TSLP(TSLP)
Strong evidence: --
Less strong evidence: Luciferase Reporter Assay,qPCR,ChIP-seq
Target gene experiment description: We further observed association of the genetic variant with a DNA methylation signature in blood that in turn is associated with allergy and expression of the gene TSLP (Thymic stromal lymphoprotein) in blood. Knockdown of the transcription factor predicted to bind the enhancer region also resulted in lower TSLP expression.

About TF

TF name : NHLH1(HEN1,NSCL,NSCL1,bHLHa35)
TF experiment: siRNA
TF experiment description: To examine whether the transcription factor NHLH1 affects the expression of any of the five genes in the locus (Fig 1), we knocked down NHLH1 in HEK293 cells using siRNAs.

About Function

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

About SNP

SNP ID: rs9885413
SNP position: 110176128
SNP experiment: Luciferase Reporter Assay,qPCR,ChIP-seq

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