| Enhancer ID: | E_02_0826 |
| Species: | human |
| Position : | chr5:110175800-110176600 |
| Biosample name: | |
| Experiment class : | low throughput |
| Enhancer type: | enhancer |
| Disease: | Heart failure |
| Pubmed ID: | 27149122 |
| Enhancer experiment: | Luciferase Reporter Assay |
| Enhancer experiment description: | To experimentally test the effect of rs9885413 on enhancer activity, the 100 bp region flanking the SNP (50 bp on either side) was cloned into a reporter vector and transfected into HEK293 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 |
| Target gene experiment description: | To experimentally test the effect of rs9885413 on enhancer activity, the 100 bp region flanking the SNP (50 bp on either side) was cloned into a reporter vector and transfected into HEK293 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. |
| TF name : | -- |
| TF experiment: | -- |
| TF experiment description: | -- |
| Enhancer function : | -- |
| Enhancer function experiment: | -- |
| Enhancer function experiment description: |
-- |
| SNP ID: | rs9885413 |
| GeneName | Pathway Name | Source | Gene Number |
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