Variant report
| Variant | rs2830682 |
|---|---|
| Chromosome Location | chr21:28470163-28470164 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:31)
| rs_ID | r2[population] |
|---|---|
| rs10084599 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs1041798 | 0.96[ASN][1000 genomes] |
| rs1041799 | 0.96[ASN][1000 genomes] |
| rs11910931 | 0.97[ASN][1000 genomes] |
| rs12710375 | 1.00[ASN][1000 genomes] |
| rs13433452 | 1.00[ASN][1000 genomes] |
| rs2039266 | 0.94[ASN][1000 genomes] |
| rs2040243 | 0.93[ASN][1000 genomes] |
| rs2065250 | 0.96[ASN][1000 genomes] |
| rs2065251 | 0.97[ASN][1000 genomes] |
| rs233589 | 0.80[EUR][1000 genomes] |
| rs233591 | 0.80[EUR][1000 genomes] |
| rs233592 | 0.80[EUR][1000 genomes] |
| rs233596 | 0.80[EUR][1000 genomes] |
| rs2830670 | 0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs2830674 | 0.93[ASN][1000 genomes] |
| rs2830675 | 0.93[ASN][1000 genomes] |
| rs2830677 | 0.94[ASN][1000 genomes] |
| rs2830678 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs2830681 | 0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2830683 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2898105 | 0.90[ASN][1000 genomes] |
| rs73187897 | 0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs8127039 | 1.00[ASN][1000 genomes] |
| rs8133395 | 0.93[ASN][1000 genomes] |
| rs9974480 | 0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs9981238 | 0.93[ASN][1000 genomes] |
| rs9981911 | 0.93[ASN][1000 genomes] |
| rs9982753 | 0.94[ASN][1000 genomes] |
| rs9983332 | 0.94[ASN][1000 genomes] |
| rs9983430 | 1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1067475 | chr21:28238746-29046707 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
| 2 | esv2758532 | chr21:28380230-28540443 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | n/a |
| 3 | esv2758817 | chr21:28380230-28540443 | Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | n/a |
| 4 | nsv1062808 | chr21:28443252-28537209 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | n/a |
| 5 | nsv544414 | chr21:28443252-28537209 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr21:28458800-28477600 | Weak transcription | Fetal Kidney | kidney |
