Variant report
| Variant | rs2205366 | 
|---|---|
| Chromosome Location | chr21:15934011-15934012 | 
| allele | C/T | 
| Outlinks | Ensembl   UCSC | 
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data | 
| No data | 
          
 (count:4 , 50 per page) page: 
       
          
               
                   
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| No. | Distal block | Cell Line | Cell type | Cell Stage | 
|---|---|---|---|---|
| 1 | chr21:15927550..15930394-chr21:15933499..15936075,3 | K562 | blood: | |
| 2 | chr21:15919906..15922793-chr21:15932302..15934213,2 | K562 | blood: | |
| 3 | chr21:15932451..15935066-chr21:15942952..15944927,2 | K562 | blood: | |
| 4 | chr21:15930237..15934475-chr21:15937814..15942130,5 | K562 | blood: | 
| No data | 
| No data | 
| No data | 
| No data | 
| rs_ID | r2[population] | 
|---|---|
| rs1040341 | 0.83[EUR][1000 genomes];0.87[ASN][1000 genomes] | 
| rs10854319 | 0.81[CHB][hapmap];0.89[JPT][hapmap] | 
| rs11909106 | 1.00[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes] | 
| rs12329657 | 0.81[CHB][hapmap];0.89[JPT][hapmap] | 
| rs1882916 | 0.88[ASN][1000 genomes] | 
| rs1882917 | 0.85[EUR][1000 genomes];0.90[ASN][1000 genomes] | 
| rs1974155 | 0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes] | 
| rs1980955 | 0.81[CHB][hapmap];0.89[JPT][hapmap] | 
| rs2064024 | 0.86[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes] | 
| rs2064025 | 0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes] | 
| rs2205365 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] | 
| rs2223092 | 0.92[CHB][hapmap];0.88[JPT][hapmap] | 
| rs2822761 | 0.81[CHB][hapmap];0.89[JPT][hapmap] | 
| rs2822765 | 0.86[CHB][hapmap];0.89[JPT][hapmap] | 
| rs2822767 | 0.86[CHB][hapmap];0.89[JPT][hapmap] | 
| rs2822776 | 0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] | 
| rs2822777 | 0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] | 
| rs3810580 | 0.86[CHB][hapmap];0.89[JPT][hapmap] | 
| rs3930263 | 0.86[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes] | 
| rs6516880 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] | 
| rs7275507 | 0.93[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes] | 
| rs7280293 | 0.81[CHB][hapmap];0.89[JPT][hapmap] | 
| rs7282042 | 0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] | 
| rs9980395 | 0.86[CHB][hapmap];0.89[JPT][hapmap] | 
| rs9980490 | 1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes] | 
| rs9981275 | 0.83[EUR][1000 genomes];0.88[ASN][1000 genomes] | 
| rs9983245 | 1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] | 
 Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 
                     
                        
                             
                                 
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                      Variant overlapped rSNPs/rCNVs (count:10 , 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 | 
| 10 | nsv522627 | chr21:15908642-15936503 | Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases | 
| No data | 
| No. | Chromosome Location | Chromatin state | Cell line | Tissue | 
|---|---|---|---|---|
| 1 | chr21:15933200-15934200 | ZNF genes & repeats | K562 | blood | 
| 2 | chr21:15933200-15934400 | ZNF genes & repeats | Dnd41 | blood | 
| 3 | chr21:15933600-15934400 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell | 






