Variant report
| Variant | rs57996050 |
|---|---|
| Chromosome Location | chr8:69687947-69687948 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:69684482..69688368-chr8:69762278..69766064,4 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000254337 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs16935048 | 1.00[ASN][1000 genomes] |
| rs34207383 | 1.00[ASN][1000 genomes] |
| rs57043258 | 1.00[ASN][1000 genomes] |
| rs58757685 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs59404825 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs60283435 | 1.00[ASN][1000 genomes] |
| rs68191047 | 1.00[ASN][1000 genomes] |
| rs6999003 | 1.00[ASN][1000 genomes] |
| rs71517216 | 1.00[ASN][1000 genomes] |
| rs72652153 | 1.00[ASN][1000 genomes] |
| rs72668533 | 1.00[ASN][1000 genomes] |
| rs73289410 | 1.00[ASN][1000 genomes] |
| rs73683711 | 1.00[ASN][1000 genomes] |
| rs73683721 | 0.97[AFR][1000 genomes] |
| rs73683724 | 1.00[ASN][1000 genomes] |
| rs73683725 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv831349 | chr8:69555461-69733515 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv465703 | chr8:69641287-69814578 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv611462 | chr8:69641287-69814578 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv890986 | chr8:69647914-69704366 | Enhancers Flanking Active TSS Weak transcription Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 5 | nsv1017131 | chr8:69676989-69792515 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:69683000-69688000 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 2 | chr8:69687800-69689400 | Weak transcription | Fetal Lung | lung |
