Variant report
| Variant | rs73594475 |
|---|---|
| Chromosome Location | chr8:54304386-54304387 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000260484 | TF binding region |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs10090392 | 0.85[ASN][1000 genomes] |
| rs10100335 | 0.86[ASN][1000 genomes] |
| rs10958354 | 0.86[ASN][1000 genomes] |
| rs59043999 | 0.86[ASN][1000 genomes] |
| rs62505430 | 0.92[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs6473811 | 0.86[ASN][1000 genomes] |
| rs6473812 | 0.86[ASN][1000 genomes] |
| rs6473813 | 0.86[ASN][1000 genomes] |
| rs6473822 | 0.88[AFR][1000 genomes] |
| rs6981264 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6981962 | 0.86[ASN][1000 genomes] |
| rs6985500 | 0.86[ASN][1000 genomes] |
| rs6986486 | 0.86[ASN][1000 genomes] |
| rs6998372 | 0.86[ASN][1000 genomes] |
| rs7004141 | 0.92[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs7006592 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7011444 | 0.88[AFR][1000 genomes] |
| rs73588586 | 0.86[ASN][1000 genomes] |
| rs73588587 | 0.86[ASN][1000 genomes] |
| rs7462603 | 0.86[ASN][1000 genomes] |
| rs9720873 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[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 | nsv1016224 | chr8:53719941-54367534 | Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 2 | nsv530534 | chr8:53787984-54367353 | Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 3 | esv3377304 | chr8:53873441-54380875 | Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 4 | esv2752674 | chr8:54181147-54483747 | Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:54303600-54307600 | Weak transcription | Aorta | Aorta |
| 2 | chr8:54303800-54308200 | Weak transcription | Adipose Nuclei | Adipose |
