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. |
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. |
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. |
Enhancer function : | -- |
Enhancer function experiment: | -- |
Enhancer function experiment description: |
-- |
SNP ID: | rs9885413 | |
SNP position: | 110176128 |
SNP experiment: | Luciferase Reporter Assay,qPCR,ChIP-seq |
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