Variant report
| Variant | rs7992500 |
|---|---|
| Chromosome Location | chr13:62335946-62335947 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:5)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:5 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | MAFK | chr13:62335856-62336070 | K562 | blood: | n/a | chr13:62336003-62336018 |
| 2 | MAFK | chr13:62335865-62336193 | IMR90 | lung: | n/a | chr13:62336003-62336018 |
| 3 | MAFK | chr13:62335854-62336195 | HepG2 | liver: | n/a | chr13:62336003-62336018 |
| 4 | MAFK | chr13:62335876-62336171 | HepG2 | liver: | n/a | chr13:62336003-62336018 |
| 5 | MAFF | chr13:62335843-62336197 | HepG2 | liver: | n/a | chr13:62336001-62336019 |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000212007 | TF binding region |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs11148563 | 0.86[EUR][1000 genomes] |
| rs1538918 | 0.85[EUR][1000 genomes] |
| rs4551929 | 0.86[EUR][1000 genomes] |
| rs73213567 | 0.91[EUR][1000 genomes] |
| rs7329223 | 0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs7999738 | 0.91[EUR][1000 genomes] |
| rs947025 | 0.86[EUR][1000 genomes] |
| rs9528383 | 0.86[EUR][1000 genomes] |
| rs9528384 | 0.86[EUR][1000 genomes] |
| rs9539259 | 0.86[EUR][1000 genomes] |
| rs9539260 | 0.86[EUR][1000 genomes] |
| rs9539269 | 0.86[EUR][1000 genomes] |
| rs9539270 | 0.86[EUR][1000 genomes] |
| rs9539274 | 0.86[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv2761266 | chr13:61928642-62690828 | Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 2 | nsv948810 | chr13:62003256-62968196 | Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 3 | nsv1041037 | chr13:62290172-62337672 | Enhancers Weak transcription ZNF genes & repeats | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv1038867 | chr13:62302878-62594554 | Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 5 | esv3445746 | chr13:62314000-62339386 | Inactive region | TF binding region | 1 gene(s) | inside rSNPs | diseases |
| 6 | esv3415162 | chr13:62316000-62342581 | ZNF genes & repeats Weak transcription Active TSS | TF binding region | 1 gene(s) | inside rSNPs | diseases |
| 7 | nsv832629 | chr13:62320369-62497238 | Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
