Variant report
| Variant | rs954616 |
|---|---|
| Chromosome Location | chr21:15694583-15694584 |
| allele | C/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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr21:15693896..15695521-chr21:15703441..15704959,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
| rs_ID | r2[population] |
|---|---|
| rs11701399 | 0.91[JPT][hapmap];0.95[ASN][1000 genomes] |
| rs1297152 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1317731 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes] |
| rs2822566 | 0.94[ASN][1000 genomes] |
| rs2822567 | 1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes] |
| rs2822572 | 0.91[JPT][hapmap];0.82[ASN][1000 genomes] |
| rs8131875 | 0.88[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes] |
| rs875138 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes] |
| rs9975944 | 1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes] |
| rs9980502 | 0.98[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1066930 | chr21:15626232-15724630 | Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv459095 | chr21:15626660-15698808 | Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv587044 | chr21:15626660-15698808 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv470878 | chr21:15630812-15698808 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 5 | nsv1064554 | chr21:15676222-15809321 | Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
| 6 | nsv518723 | chr21:15693476-15696271 | Enhancers | Chromatin interactive regionlncRNA | n/a | inside rSNPs | n/a |
| No data |





