Variant report
| Variant | rs57454138 |
|---|---|
| Chromosome Location | chr12:106225425-106225426 |
| 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 | chr12:106225258..106227165-chr12:106227255..106229879,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs11112783 | 1.00[EUR][1000 genomes] |
| rs11834687 | 1.00[EUR][1000 genomes] |
| rs12302856 | 1.00[EUR][1000 genomes] |
| rs1362976 | 1.00[ASN][1000 genomes] |
| rs1421437 | 1.00[EUR][1000 genomes] |
| rs17037459 | 1.00[EUR][1000 genomes] |
| rs17037622 | 1.00[EUR][1000 genomes] |
| rs17037733 | 1.00[EUR][1000 genomes] |
| rs17037736 | 1.00[EUR][1000 genomes] |
| rs17037741 | 1.00[EUR][1000 genomes] |
| rs17037742 | 1.00[EUR][1000 genomes] |
| rs17037756 | 1.00[EUR][1000 genomes] |
| rs17037760 | 1.00[EUR][1000 genomes] |
| rs17037763 | 1.00[EUR][1000 genomes] |
| rs35997774 | 1.00[EUR][1000 genomes] |
| rs56123105 | 1.00[EUR][1000 genomes] |
| rs57275238 | 1.00[EUR][1000 genomes] |
| rs57321476 | 1.00[EUR][1000 genomes] |
| rs57687607 | 1.00[EUR][1000 genomes] |
| rs58650564 | 1.00[EUR][1000 genomes] |
| rs58655382 | 1.00[ASN][1000 genomes] |
| rs60384264 | 1.00[EUR][1000 genomes] |
| rs60604017 | 1.00[EUR][1000 genomes] |
| rs718790 | 1.00[EUR][1000 genomes] |
| rs7307022 | 1.00[EUR][1000 genomes] |
| rs73383202 | 0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73391241 | 1.00[EUR][1000 genomes] |
| rs7963779 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1047810 | chr12:106067049-106246582 | Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 2 | nsv1040261 | chr12:106068992-106246582 | Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 3 | nsv832508 | chr12:106198797-106409112 | Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:106216800-106237600 | Weak transcription | HSMMtube | muscle |
