Variant report
| Variant | rs1989044 |
|---|---|
| Chromosome Location | chr21:28496127-28496128 |
| 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:22)
| rs_ID | r2[population] |
|---|---|
| rs1236212 | 0.86[ASN][1000 genomes] |
| rs1236219 | 0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs1537089 | 0.97[ASN][1000 genomes] |
| rs1537090 | 0.87[AFR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1539967 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1989045 | 0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1989326 | 0.86[ASN][1000 genomes] |
| rs2830673 | 0.86[ASN][1000 genomes] |
| rs2830679 | 0.87[ASN][1000 genomes] |
| rs2830701 | 0.91[ASN][1000 genomes] |
| rs2830702 | 0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs2830703 | 0.92[ASN][1000 genomes] |
| rs2830713 | 0.96[ASN][1000 genomes] |
| rs2830714 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4817156 | 0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs6417676 | 0.92[ASN][1000 genomes] |
| rs7277343 | 0.92[ASN][1000 genomes] |
| rs7277357 | 0.92[ASN][1000 genomes] |
| rs928266 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs933153 | 0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs996666 | 0.89[AFR][1000 genomes];0.97[ASN][1000 genomes] |
| rs996667 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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 | chr21:28493800-28498000 | Weak transcription | Adipose Nuclei | Adipose |
| 2 | chr21:28493800-28498000 | Weak transcription | Fetal Lung | lung |
