About Enhancer
| Enhancer ID: | E_01_089 | |
| Enhancer symbol: | -- | |
| Species: | Human | |
| Position : | chr20:62593247-62595247   |
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| Biosample name: | SK-N-AS,Hep G2 | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer | |
| Disease: | Amyotrophic Lateral Sclerosis | |
| DO: | DOID:332 | |
| Mesh: | D000690 | |
| Distance from TSS: | >2KB | |
| Pubmed ID: | 21665992 |
| Enhancer experiment: | Luciferase Reporter Assay,EMSA,PCR | |
| Enhancer experiment description: | To gain insight into the biological significance of rs2275294,luciferase reporter plasmids corresponding to a genomic DNA fragment containing rs2275294 were constructed and a luciferase assay using the human neuroblastoma cell line SK--N--Be(2)C was performed. Constructs containing the ALS--susceptibility allele (C allele) of rs2275294 showed lower enhancer activity than those containing the nonsusceptibility allele, indicating that the SNP affects the ZNF512B transcription level (Fig. 2A). We then examined the allelic difference in the binding of genomic DNA containing rs2275294 to nuclear proteins by the electrophoretic mobility shift assay (EMSA). |
About Target gene
| Target gene : | ZNF512B(GM632) | |
| Strong evidence: | -- | |
| Less strong evidence: | Luciferase Reporter Assay,EMSA | |
| Target gene experiment description: | To gain insight into the biological significance of rs2275294,luciferase reporter plasmids corresponding to a genomic DNA fragment containing rs2275294 were constructed and a luciferase assay using the human neuroblastoma cell line SK--N--Be(2)C was performed. Constructs containing the ALS--susceptibility allele (C allele) of rs2275294 showed lower enhancer activity than those containing the nonsusceptibility allele, indicating that the SNP affects the ZNF512B transcription level (Fig. 2A). We then examined the allelic difference in the binding of genomic DNA containing rs2275294 to nuclear proteins by the electrophoretic mobility shift assay (EMSA). |
About TF
| TF name : | -- | |
| TF experiment: | -- | |
| TF experiment description: | -- |
About Function
| Enhancer function : | -- |
| Enhancer function experiment: | -- |
| Enhancer function experiment description: |
-- |
About SNP
| SNP ID: | rs2275294 | |
| SNP position: | 62594247 |
| SNP experiment: | Luciferase Reporter Assay,EMSA,PCR |
Enhancer associated network
The number on yellow line represents the distance between enhancer and target gene
