Variant report
| Variant | rs12085787 |
|---|---|
| Chromosome Location | chr1:221718904-221718905 |
| allele | A/G |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:221716913..221720065-chr1:221720989..221725368,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000227585 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs11118720 | 1.00[AMR][1000 genomes] |
| rs11118752 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12058952 | 1.00[AMR][1000 genomes] |
| rs12064948 | 1.00[AMR][1000 genomes] |
| rs12065046 | 1.00[AMR][1000 genomes] |
| rs12070831 | 1.00[AMR][1000 genomes] |
| rs12071559 | 1.00[AMR][1000 genomes] |
| rs12075523 | 1.00[AMR][1000 genomes] |
| rs12077254 | 1.00[AMR][1000 genomes] |
| rs12077976 | 1.00[AMR][1000 genomes] |
| rs12086226 | 1.00[AMR][1000 genomes] |
| rs12087035 | 1.00[AMR][1000 genomes] |
| rs12089533 | 1.00[AMR][1000 genomes] |
| rs12090444 | 1.00[AMR][1000 genomes] |
| rs12095681 | 1.00[AMR][1000 genomes] |
| rs57185653 | 1.00[AMR][1000 genomes] |
| rs60434045 | 1.00[AMR][1000 genomes] |
| rs74144265 | 1.00[AMR][1000 genomes] |
| rs74144283 | 1.00[AMR][1000 genomes] |
| rs74144295 | 1.00[AMR][1000 genomes] |
| rs74145351 | 1.00[AMR][1000 genomes] |
| rs74145380 | 1.00[AMR][1000 genomes] |
| rs74146103 | 1.00[AMR][1000 genomes] |
| rs74147805 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs9943267 | 1.00[AMR][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 | nsv997685 | chr1:220993527-221863416 | Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
| 2 | nsv535299 | chr1:220993527-221863416 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
| 3 | nsv873200 | chr1:221644180-221843191 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 4 | nsv1009838 | chr1:221692621-221773945 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 5 | nsv535301 | chr1:221692621-221773945 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:221717600-221721400 | Weak transcription | Liver | Liver |
