Variant report
| Variant | rs287000 |
|---|---|
| Chromosome Location | chr12:42025983-42025984 |
| allele | A/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 | chr12:42020404..42022479-chr12:42024627..42027388,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:37)
| rs_ID | r2[population] |
|---|---|
| rs1020534 | 0.87[ASN][1000 genomes] |
| rs10431602 | 0.87[ASN][1000 genomes] |
| rs10431603 | 0.86[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes] |
| rs10506205 | 0.86[JPT][hapmap] |
| rs10880114 | 0.83[ASN][1000 genomes] |
| rs10880115 | 0.83[ASN][1000 genomes] |
| rs10880119 | 0.83[ASN][1000 genomes] |
| rs10880120 | 0.83[ASN][1000 genomes] |
| rs10880125 | 0.83[ASN][1000 genomes] |
| rs11181079 | 0.83[ASN][1000 genomes] |
| rs11181094 | 0.83[ASN][1000 genomes] |
| rs11181095 | 0.83[ASN][1000 genomes] |
| rs11181102 | 0.83[ASN][1000 genomes] |
| rs11181121 | 0.81[ASN][1000 genomes] |
| rs11181124 | 0.81[ASN][1000 genomes] |
| rs12425224 | 0.83[ASN][1000 genomes] |
| rs157972 | 0.85[JPT][hapmap] |
| rs158190 | 0.86[JPT][hapmap] |
| rs285563 | 0.90[ASN][1000 genomes] |
| rs285564 | 0.90[ASN][1000 genomes] |
| rs285565 | 0.88[ASN][1000 genomes] |
| rs285566 | 0.90[ASN][1000 genomes] |
| rs285568 | 0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes] |
| rs285569 | 0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes] |
| rs286978 | 0.93[ASN][1000 genomes] |
| rs286979 | 0.93[ASN][1000 genomes] |
| rs286991 | 0.85[JPT][hapmap] |
| rs286996 | 0.84[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs286997 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs287001 | 0.84[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs287013 | 0.87[ASN][1000 genomes] |
| rs287030 | 0.90[ASN][1000 genomes] |
| rs287042 | 0.93[ASN][1000 genomes] |
| rs287067 | 0.88[EUR][1000 genomes] |
| rs35306460 | 0.81[ASN][1000 genomes] |
| rs4514489 | 0.90[ASN][1000 genomes] |
| rs7963993 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 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 | esv3337301 | chr12:41851654-42093677 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 2 | nsv899040 | chr12:41905897-42181706 | Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv899041 | chr12:42005690-42072514 | Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv832386 | chr12:42017259-42189476 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:42024200-42029400 | Weak transcription | Fetal Brain Male | brain |
