Variant report
| Variant | rs73120223 |
|---|---|
| Chromosome Location | chr12:42022214-42022215 |
| allele | A/C |
| 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:22)
| rs_ID | r2[population] |
|---|---|
| rs10161524 | 1.00[ASN][1000 genomes] |
| rs11608265 | 1.00[ASN][1000 genomes] |
| rs11609867 | 1.00[ASN][1000 genomes] |
| rs11611316 | 1.00[ASN][1000 genomes] |
| rs11614531 | 1.00[ASN][1000 genomes] |
| rs11615358 | 0.93[EUR][1000 genomes] |
| rs11615811 | 1.00[ASN][1000 genomes] |
| rs12816326 | 1.00[ASN][1000 genomes] |
| rs17591910 | 1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17651175 | 1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs34065803 | 1.00[ASN][1000 genomes] |
| rs34572373 | 1.00[ASN][1000 genomes] |
| rs35513811 | 1.00[ASN][1000 genomes] |
| rs3906839 | 1.00[ASN][1000 genomes] |
| rs4768363 | 1.00[ASN][1000 genomes] |
| rs55725023 | 1.00[ASN][1000 genomes] |
| rs61924341 | 1.00[ASN][1000 genomes] |
| rs61939329 | 1.00[ASN][1000 genomes] |
| rs61939354 | 1.00[ASN][1000 genomes] |
| rs61940382 | 1.00[ASN][1000 genomes] |
| rs61940385 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61940407 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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 | chr12:42021000-42024200 | Enhancers | Fetal Brain Male | brain |
| 2 | chr12:42022200-42022600 | Weak transcription | Fetal Brain Female | brain |
