Variant report
| Variant | rs12823493 |
|---|---|
| Chromosome Location | chr12:62618747-62618748 |
| 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 | chr12:62605577..62607891-chr12:62616837..62619174,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs10784287 | 0.86[ASN][1000 genomes] |
| rs10877817 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11174360 | 0.85[ASN][1000 genomes] |
| rs11174361 | 0.82[ASN][1000 genomes] |
| rs11174368 | 0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs11174369 | 0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs11174373 | 0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs11174377 | 1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs11174378 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11174383 | 0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs11174387 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs1406799 | 0.85[AFR][1000 genomes];0.86[ASN][1000 genomes] |
| rs1920087 | 0.86[ASN][1000 genomes] |
| rs2884779 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs3759290 | 0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs4143667 | 0.85[AFR][1000 genomes];0.86[ASN][1000 genomes] |
| rs7305482 | 0.83[ASN][1000 genomes] |
| rs7308544 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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 | nsv1035150 | chr12:62615347-62785005 | Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:62609200-62620600 | Weak transcription | K562 | blood |
