Variant report
| Variant | rs17442353 |
|---|---|
| Chromosome Location | chr12:40468468-40468469 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:40468130..40470395-chr12:40476626..40479537,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:62)
| rs_ID | r2[population] |
|---|---|
| rs11564113 | 1.00[JPT][hapmap] |
| rs17442095 | 1.00[JPT][hapmap] |
| rs17442346 | 1.00[JPT][hapmap] |
| rs17442490 | 1.00[JPT][hapmap] |
| rs17442882 | 1.00[JPT][hapmap] |
| rs17443022 | 1.00[ASN][1000 genomes] |
| rs17443421 | 1.00[JPT][hapmap] |
| rs17443552 | 1.00[JPT][hapmap] |
| rs17443607 | 1.00[ASN][1000 genomes] |
| rs17458257 | 1.00[JPT][hapmap] |
| rs17458745 | 1.00[JPT][hapmap] |
| rs17458773 | 1.00[JPT][hapmap] |
| rs17458974 | 1.00[JPT][hapmap] |
| rs17460894 | 1.00[JPT][hapmap] |
| rs17460992 | 1.00[JPT][hapmap] |
| rs17461720 | 1.00[ASN][1000 genomes] |
| rs17465716 | 1.00[JPT][hapmap] |
| rs17465849 | 1.00[JPT][hapmap] |
| rs17465891 | 1.00[JPT][hapmap] |
| rs17465898 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs17483502 | 1.00[JPT][hapmap] |
| rs17489459 | 1.00[JPT][hapmap] |
| rs17489480 | 1.00[JPT][hapmap] |
| rs17489666 | 1.00[JPT][hapmap] |
| rs17490013 | 1.00[JPT][hapmap] |
| rs17490578 | 1.00[JPT][hapmap] |
| rs17490620 | 1.00[JPT][hapmap] |
| rs17490762 | 1.00[JPT][hapmap] |
| rs17518014 | 1.00[JPT][hapmap] |
| rs17518050 | 1.00[JPT][hapmap] |
| rs17518183 | 1.00[JPT][hapmap] |
| rs17518427 | 1.00[JPT][hapmap] |
| rs17518441 | 1.00[JPT][hapmap] |
| rs17518476 | 1.00[JPT][hapmap] |
| rs17518672 | 1.00[JPT][hapmap] |
| rs17518735 | 1.00[JPT][hapmap] |
| rs17519797 | 1.00[JPT][hapmap] |
| rs28365202 | 1.00[JPT][hapmap] |
| rs28370603 | 1.00[JPT][hapmap] |
| rs28370641 | 1.00[JPT][hapmap] |
| rs28370650 | 1.00[JPT][hapmap] |
| rs28370657 | 1.00[JPT][hapmap] |
| rs28370698 | 1.00[JPT][hapmap] |
| rs28370706 | 1.00[JPT][hapmap] |
| rs28370720 | 1.00[JPT][hapmap] |
| rs28370728 | 1.00[JPT][hapmap] |
| rs28370730 | 1.00[JPT][hapmap] |
| rs28370743 | 1.00[JPT][hapmap] |
| rs28370759 | 1.00[JPT][hapmap] |
| rs28370766 | 1.00[JPT][hapmap] |
| rs28370770 | 1.00[JPT][hapmap] |
| rs28370777 | 1.00[JPT][hapmap] |
| rs28370778 | 1.00[JPT][hapmap] |
| rs28370782 | 1.00[JPT][hapmap] |
| rs28370784 | 1.00[JPT][hapmap] |
| rs28370786 | 1.00[JPT][hapmap] |
| rs28370792 | 1.00[JPT][hapmap] |
| rs28370800 | 1.00[CHB][hapmap] |
| rs28370801 | 1.00[JPT][hapmap] |
| rs28370811 | 1.00[JPT][hapmap] |
| rs28370825 | 1.00[JPT][hapmap] |
| rs35220137 | 0.84[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv558596 | chr12:40413698-40591117 | Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:40453800-40487400 | Weak transcription | Left Ventricle | heart |
| 2 | chr12:40457600-40471600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 3 | chr12:40464400-40493200 | Weak transcription | Colon Smooth Muscle | Colon |
| 4 | chr12:40466400-40498200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
