About Enhancer
| Enhancer ID: | E_02_0904 |
| Species: | human |
| Position : | chr12:54357811-54358445   |
| Biosample name: | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer |
| Disease: | Esophageal squamous cell carcinoma |
| Pubmed ID: | 24788237 |
| Enhancer experiment: | Luciferase Reporter Assay,PCR |
| Enhancer experiment description: | Because the ESCC susceptibility SNP rs920778 is located within the HOTAIR intron 2 and previous H3K4me1 and H3K4me3 modi_x0002_fication data suggest that there might be a potential enhancer in this intron,we therefore examined the enhancer activity of this region by a set of luciferase reporter gene constructs in human ESCC KYSE30 and KYSE150 cells These results indicated that there may be a negative regulatory element between +1463bp and +1718bpfrom the transcriptional start site and the core region of this intronic enhancer might exist between +1719bp and +2353bp from the tran_x0002_scriptional start?site. |
About Target gene
| Target gene : | HOTAIR (HOXAS,HOXC-AS4,HOXC11-AS1,NCRNA00072) |
| Strong evidence: | -- |
| Less strong evidence: | Luciferase Reporter Assay,PCR |
| Target gene experiment description: | We hypothesized that the functional single nucleotide polymorphisms (SNP) in HOTAIR may affect HOTAIR expression and/or its function and, thus, ESCC risk. Therefore, we examined the association between three haplotype_x0002_tagging SNPs (htSNP) across the whole HOTAIR locus and ESCC risk as well as the functional relevance of an ESCC susceptibility SNP rs920778. |
About TF
| TF name : | -- |
| TF experiment: | -- |
| TF experiment description: | -- |
About Function
| Enhancer function : | The identification of an ESCC susceptibility SNP rs920778 that regulates the expression of lncRNA HOTAIR via a novel intronic Enhancer. |
| Enhancer function experiment: | ChIP,Luciferase Reporter Assay,PCR |
| Enhancer function experiment description: |
Interestingly, the ESCC susceptibility SNP rs920778 in this Enhancer has a genotype-specific effect on lncRNA HOTAIR expression. Our observations also support the hypothesis that functional genetic variants influencing lncRNA regulation may explain a part of ESCC genetic basis. |
About SNP
| SNP ID: | rs920778 |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene