Variant report
| Variant | rs12491375 |
|---|---|
| Chromosome Location | chr3:20713095-20713096 |
| allele | C/T |
| 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 | chr3:20711400..20713632-chr3:20716289..20718523,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs13085485 | 0.95[ASN][1000 genomes] |
| rs13099390 | 1.00[ASN][1000 genomes] |
| rs35758548 | 1.00[ASN][1000 genomes] |
| rs55966762 | 1.00[ASN][1000 genomes] |
| rs67804786 | 0.95[ASN][1000 genomes] |
| rs73029184 | 0.95[ASN][1000 genomes] |
| rs73029199 | 0.95[ASN][1000 genomes] |
| rs73032710 | 0.95[ASN][1000 genomes] |
| rs73032716 | 0.95[ASN][1000 genomes] |
| rs73032720 | 0.95[ASN][1000 genomes] |
| rs73034907 | 0.95[ASN][1000 genomes] |
| rs73036654 | 1.00[ASN][1000 genomes] |
| rs73038638 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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 | nsv1001006 | chr3:20110743-20752628 | Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
| 2 | nsv536512 | chr3:20110743-20752628 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
| 3 | nsv876598 | chr3:20242143-20970042 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 4 | nsv876599 | chr3:20264950-20813009 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 5 | nsv876603 | chr3:20626326-20727885 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 6 | nsv460460 | chr3:20638228-20718124 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | Chromatin interactive region | 3 gene(s) | inside rSNPs | n/a |
| 7 | nsv589866 | chr3:20638228-20718124 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS | Chromatin interactive region | 3 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:20711600-20725800 | Weak transcription | Aorta | Aorta |
| 2 | chr3:20711800-20715400 | Weak transcription | Psoas Muscle | Psoas |
