Variant report
| Variant | rs57800469 |
|---|---|
| Chromosome Location | chr12:30649137-30649138 |
| allele | A/G |
| 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 | chr12:30646656..30649637-chr12:30912418..30914854,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs11835968 | 0.84[ASN][1000 genomes] |
| rs4931347 | 0.86[ASN][1000 genomes] |
| rs57865433 | 1.00[EUR][1000 genomes] |
| rs58828426 | 1.00[ASN][1000 genomes] |
| rs58849181 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs59540862 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs59849223 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs59971700 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs60094407 | 1.00[EUR][1000 genomes] |
| rs61330126 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61921137 | 1.00[EUR][1000 genomes] |
| rs73279250 | 0.84[ASN][1000 genomes] |
| rs73287313 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73287348 | 1.00[EUR][1000 genomes] |
| rs73287351 | 1.00[EUR][1000 genomes] |
| rs74082420 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs74084145 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 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 | esv3343291 | chr12:30455597-30992837 | Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
| 2 | nsv1050233 | chr12:30590071-30670919 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 3 | esv3427340 | chr12:30649095-30649444 | Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30648800-30653600 | Strong transcription | Liver | Liver |
