Variant report
| Variant | rs371195 | 
|---|---|
| Chromosome Location | chr21:15583629-15583630 | 
| 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 | 
          
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| No. | Distal block | Cell Line | Cell type | Cell Stage | 
|---|---|---|---|---|
| 1 | chr21:15576826..15579345-chr21:15583403..15585435,2 | K562 | blood: | 
| No data | 
| No data | 
| No data | 
| Variant related genes | Relation type | 
|---|---|
| ENSG00000188992 | Chromatin interaction | 
| rs_ID | r2[population] | 
|---|---|
| rs118511 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap] | 
| rs369229 | 0.83[EUR][1000 genomes] | 
| rs380272 | 0.84[EUR][1000 genomes] | 
| rs381199 | 0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes] | 
| rs416402 | 0.81[TSI][hapmap] | 
| rs431859 | 0.83[EUR][1000 genomes] | 
| rs447455 | 0.90[TSI][hapmap] | 
 Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 
                     
                        
                             
                                 
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                      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 | nsv1058202 | chr21:14706767-15628668 | Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 38 gene(s) | inside rSNPs | diseases | 
| 2 | nsv869466 | chr21:15482572-15683385 | Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases | 
| 3 | nsv913402 | chr21:15545350-15606128 | Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases | 
| 4 | nsv1056588 | chr21:15583231-15615520 | Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases | 






