Variant report
| Variant | rs13266530 |
|---|---|
| Chromosome Location | chr8:54505897-54505898 |
| allele | G/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:21)
| rs_ID | r2[population] |
|---|---|
| rs10958374 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs10958387 | 0.87[EUR][1000 genomes] |
| rs11774639 | 0.86[EUR][1000 genomes] |
| rs11776780 | 0.83[EUR][1000 genomes] |
| rs11778944 | 0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11778957 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs11781639 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs11783135 | 0.99[EUR][1000 genomes] |
| rs11785567 | 0.83[EUR][1000 genomes] |
| rs11787275 | 0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs12155632 | 0.87[EUR][1000 genomes] |
| rs12545078 | 0.98[EUR][1000 genomes] |
| rs12549792 | 0.97[EUR][1000 genomes] |
| rs13263182 | 0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs13267322 | 0.98[EUR][1000 genomes] |
| rs13268090 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs13275975 | 0.99[EUR][1000 genomes] |
| rs1551912 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs35341975 | 0.96[EUR][1000 genomes] |
| rs7464047 | 0.88[EUR][1000 genomes] |
| rs7815156 | 0.86[EUR][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 | esv1813750 | chr8:54471135-54528984 | Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 2 | esv2758159 | chr8:54474589-54737473 | Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 3 | esv2759616 | chr8:54474589-54737473 | Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs13266530 | ATP6V1H | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:54503400-54510600 | Weak transcription | Aorta | Aorta |
| 2 | chr8:54504400-54506000 | Enhancers | Fetal Heart | heart |
