Variant report
| Variant | rs2064024 | 
|---|---|
| Chromosome Location | chr21:15945633-15945634 | 
| allele | G/T | 
| Outlinks | Ensembl   UCSC | 
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data | 
| No data | 
          
 (count:5 , 50 per page) page: 
       
          
               
                   
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| No. | Distal block | Cell Line | Cell type | Cell Stage | 
|---|---|---|---|---|
| 1 | chr21:15918667..15923010-chr21:15942455..15946099,5 | K562 | blood: | |
| 2 | chr21:15945593..15948533-chr21:15955041..15959412,3 | K562 | blood: | |
| 3 | chr21:15940693..15943113-chr21:15945415..15947276,2 | K562 | blood: | |
| 4 | chr21:15944720..15947651-chr21:15950659..15952358,2 | K562 | blood: | |
| 5 | chr21:15942194..15946580-chr21:15946989..15950349,5 | K562 | blood: | 
| No data | 
| No data | 
| No data | 
| Variant related genes | Relation type | 
|---|---|
| ENSG00000155307 | Chromatin interaction | 
| rs_ID | r2[population] | 
|---|---|
| rs1040341 | 0.86[ASN][1000 genomes] | 
| rs10854319 | 0.82[CHB][hapmap];0.85[JPT][hapmap] | 
| rs11909106 | 0.87[CHB][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes] | 
| rs12329657 | 0.81[CHB][hapmap];0.84[JPT][hapmap] | 
| rs1882916 | 0.85[EUR][1000 genomes];0.81[ASN][1000 genomes] | 
| rs1882917 | 1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes] | 
| rs1974155 | 0.87[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] | 
| rs1980955 | 0.82[CHB][hapmap];0.85[JPT][hapmap] | 
| rs2064025 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] | 
| rs2205365 | 0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes] | 
| rs2205366 | 0.86[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes] | 
| rs2223092 | 0.87[CHB][hapmap];0.84[JPT][hapmap] | 
| rs2822761 | 0.81[CHB][hapmap];0.84[JPT][hapmap] | 
| rs2822765 | 0.87[CHB][hapmap];0.84[JPT][hapmap] | 
| rs2822767 | 0.87[CHB][hapmap];0.89[JPT][hapmap] | 
| rs2822776 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] | 
| rs2822777 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] | 
| rs3810580 | 0.88[CHB][hapmap];0.85[JPT][hapmap] | 
| rs3930263 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes] | 
| rs6516880 | 0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes] | 
| rs7275507 | 0.82[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes] | 
| rs7280293 | 0.82[CHB][hapmap];0.85[JPT][hapmap] | 
| rs7282042 | 0.87[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes] | 
| rs9980395 | 0.87[CHB][hapmap];0.84[JPT][hapmap] | 
| rs9980490 | 0.87[CHB][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes] | 
| rs9981275 | 0.81[ASN][1000 genomes] | 
| rs9983245 | 0.86[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes] | 
 Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 
                     
                        
                             
                                 
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                      Variant overlapped rSNPs/rCNVs (count:9 , 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 | nsv1059591 | chr21:15835325-15969195 | Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases | 
| 2 | nsv1056423 | chr21:15838309-15948474 | Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases | 
| 3 | nsv544376 | chr21:15855470-15948474 | Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases | 
| 4 | nsv1065823 | chr21:15863224-15948474 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases | 
| 5 | nsv1057934 | chr21:15863224-15969195 | Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases | 
| 6 | nsv1058533 | chr21:15896056-15948474 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases | 
| 7 | nsv544377 | chr21:15896056-15948474 | Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases | 
| 8 | nsv834045 | chr21:15900678-16112850 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases | 
| 9 | nsv834046 | chr21:15903792-16077369 | Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases | 
| No data | 
| No. | Chromosome Location | Chromatin state | Cell line | Tissue | 
|---|---|---|---|---|
| 1 | chr21:15940200-15946000 | Enhancers | Primary neutrophils fromperipheralblood | blood | 
| 2 | chr21:15945000-15946200 | Enhancers | GM12878-XiMat | blood | 
| 3 | chr21:15945000-15946200 | Enhancers | K562 | blood | 
| 4 | chr21:15945400-15946200 | Enhancers | ES-I3 Cell Line | embryonic stem cell | 






