Variant report
| Variant | rs2091947 |
|---|---|
| Chromosome Location | chr21:16706974-16706975 |
| 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 | chr21:16701999..16704280-chr21:16706515..16709214,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs10211859 | 0.92[EUR][1000 genomes] |
| rs17241270 | 0.92[EUR][1000 genomes] |
| rs2049835 | 0.92[EUR][1000 genomes] |
| rs2049882 | 0.92[EUR][1000 genomes] |
| rs2823234 | 0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2823235 | 0.92[EUR][1000 genomes] |
| rs2823236 | 0.92[EUR][1000 genomes] |
| rs2823237 | 0.92[EUR][1000 genomes] |
| rs2823238 | 0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs2823239 | 0.91[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs2823242 | 0.89[EUR][1000 genomes] |
| rs2823244 | 0.88[EUR][1000 genomes] |
| rs28478640 | 0.90[EUR][1000 genomes] |
| rs6517365 | 0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs6517383 | 0.92[EUR][1000 genomes] |
| rs7278751 | 0.92[EUR][1000 genomes] |
| rs7279326 | 0.96[EUR][1000 genomes] |
| rs7280494 | 0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs7281880 | 0.92[EUR][1000 genomes] |
| rs8128176 | 0.92[EUR][1000 genomes] |
| rs9980544 | 0.90[EUR][1000 genomes] |
| rs9981613 | 0.80[EUR][1000 genomes] |
| rs9982882 | 0.93[EUR][1000 genomes] |
| rs9982903 | 0.92[EUR][1000 genomes] |
| rs9983155 | 0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1063385 | chr21:16521617-16926212 | Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 2 | nsv1056659 | chr21:16646531-16709391 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 3 | nsv1064280 | chr21:16664312-17049272 | Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 4 | esv1812556 | chr21:16690063-16736368 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr21:16705600-16707200 | Enhancers | Monocytes-CD14+_RO01746 | blood |
| 2 | chr21:16706000-16707200 | Enhancers | Primary monocytes fromperipheralblood | blood |
