Variant report
| Variant | rs11050686 |
|---|---|
| Chromosome Location | chr12:30307632-30307633 |
| allele | C/G/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 | chr12:30307525..30310508-chr12:30315898..30318662,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:10)
| rs_ID | r2[population] |
|---|---|
| rs10771651 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs10843621 | 0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs10843626 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11050671 | 0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs11050695 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs11050696 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs2171042 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2351212 | 0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs7296419 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs7311168 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv948495 | chr12:30090771-30344772 | ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 2 | nsv1042081 | chr12:30147993-30344670 | Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 3 | nsv541436 | chr12:30147993-30344670 | Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 4 | nsv821695 | chr12:30287314-30450174 | Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 5 | nsv1050757 | chr12:30288879-30329142 | Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 6 | nsv1035561 | chr12:30288879-30336486 | Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 7 | esv20070 | chr12:30307157-30307634 | Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30307600-30309200 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
