Variant report
| Variant | rs1292589 | 
|---|---|
| Chromosome Location | chr21:15993957-15993958 | 
| 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 | chr21:15985514..15988393-chr21:15989367..15994377,5 | K562 | blood: | 
| No data | 
| No data | 
| No data | 
| Variant related genes | Relation type | 
|---|---|
| ENSG00000243440 | Chromatin interaction | 
| rs_ID | r2[population] | 
|---|---|
| rs11088124 | 0.93[ASN][1000 genomes] | 
| rs11701328 | 0.81[ASN][1000 genomes] | 
| rs1292580 | 0.88[ASN][1000 genomes] | 
| rs1292581 | 0.88[ASN][1000 genomes] | 
| rs1292585 | 0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes] | 
| rs1292588 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes] | 
| rs1292594 | 0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes] | 
| rs1292597 | 0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes] | 
| rs1977014 | 0.81[ASN][1000 genomes] | 
| rs1977015 | 0.81[ASN][1000 genomes] | 
| rs2125751 | 0.81[ASN][1000 genomes] | 
| rs2822819 | 0.81[ASN][1000 genomes] | 
| rs372539 | 0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes] | 
| rs376583 | 0.96[ASN][1000 genomes] | 
| rs383431 | 0.96[ASN][1000 genomes] | 
| rs402024 | 0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] | 
| rs407446 | 0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes] | 
| rs4171 | 0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes] | 
| rs421894 | 0.87[ASN][1000 genomes] | 
| rs445139 | 0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes] | 
| rs455658 | 0.94[ASN][1000 genomes] | 
| rs456278 | 0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes] | 
| rs456716 | 0.81[ASN][1000 genomes] | 
| rs457036 | 0.87[AFR][1000 genomes];0.95[ASN][1000 genomes] | 
| rs458104 | 0.81[ASN][1000 genomes] | 
| rs458959 | 0.81[EUR][1000 genomes];0.95[ASN][1000 genomes] | 
| rs459315 | 0.81[ASN][1000 genomes] | 
| rs459837 | 0.84[EUR][1000 genomes];0.94[ASN][1000 genomes] | 
| rs460280 | 0.81[ASN][1000 genomes] | 
| rs460643 | 0.81[ASN][1000 genomes] | 
| rs460786 | 0.96[ASN][1000 genomes] | 
| rs462339 | 0.81[ASN][1000 genomes] | 
| rs462418 | 0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes] | 
| rs464381 | 0.81[ASN][1000 genomes] | 
| rs464687 | 0.81[ASN][1000 genomes] | 
| rs465674 | 0.81[ASN][1000 genomes] | 
| rs466464 | 0.81[ASN][1000 genomes] | 
| rs467055 | 0.81[ASN][1000 genomes] | 
| rs7275267 | 0.81[ASN][1000 genomes] | 
| rs7277131 | 0.81[ASN][1000 genomes] | 
| rs7280842 | 0.81[ASN][1000 genomes] | 
| rs8129100 | 0.84[ASN][1000 genomes] | 
| rs989877 | 0.81[ASN][1000 genomes] | 
| rs989878 | 0.81[ASN][1000 genomes] | 
| rs9977944 | 0.81[ASN][1000 genomes] | 
| rs9980813 | 0.81[ASN][1000 genomes] | 
 Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 
                     
                        
                             
                                 
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                      Variant overlapped rSNPs/rCNVs (count:2 , 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 | 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 | 
| 2 | 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 | chr21:15992200-15994600 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell | 
| 2 | chr21:15992800-15994800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell | 
| 3 | chr21:15993200-15994000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell | 
| 4 | chr21:15993400-15994400 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell | 
| 5 | chr21:15993600-15994400 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell | 






