Variant report
| Variant | rs6473596 |
|---|---|
| Chromosome Location | chr8:52251267-52251268 |
| 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:23)
| rs_ID | r2[population] |
|---|---|
| rs1219679 | 0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1370445 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1437593 | 0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs3097707 | 0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs4500070 | 0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs4873189 | 0.89[ASN][1000 genomes] |
| rs4873530 | 0.87[ASN][1000 genomes] |
| rs4873541 | 0.88[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs6473594 | 0.88[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs6984536 | 0.85[ASN][1000 genomes] |
| rs6992829 | 0.91[ASN][1000 genomes] |
| rs6995702 | 0.91[ASN][1000 genomes] |
| rs6999880 | 0.89[ASN][1000 genomes] |
| rs7004460 | 0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs7813377 | 0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs7817771 | 0.87[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs7828080 | 0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs7834299 | 0.88[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7842285 | 0.82[ASN][1000 genomes] |
| rs7845311 | 0.87[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs9298441 | 0.91[ASN][1000 genomes] |
| rs9298443 | 0.88[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs9657149 | 0.86[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv932026 | chr8:51858658-52758574 | Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 10 gene(s) | inside rSNPs | diseases |
| 2 | nsv948338 | chr8:52060314-52368754 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv890895 | chr8:52190571-52615191 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:52245000-52258600 | Weak transcription | Left Ventricle | heart |
| 2 | chr8:52250800-52251400 | Enhancers | Fetal Lung | lung |
