Variant report
| Variant | rs56319439 |
|---|---|
| Chromosome Location | chr8:10846972-10846973 |
| allele | A/C |
| 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:24)
| rs_ID | r2[population] |
|---|---|
| rs10091913 | 0.82[EUR][1000 genomes] |
| rs10107384 | 0.82[EUR][1000 genomes] |
| rs11250108 | 0.80[EUR][1000 genomes] |
| rs11784312 | 0.82[EUR][1000 genomes] |
| rs12216757 | 0.80[EUR][1000 genomes] |
| rs12216784 | 0.83[EUR][1000 genomes] |
| rs12216875 | 0.80[EUR][1000 genomes] |
| rs4507728 | 0.82[EUR][1000 genomes] |
| rs4841469 | 0.84[EUR][1000 genomes] |
| rs4841471 | 0.82[EUR][1000 genomes] |
| rs4841472 | 0.83[EUR][1000 genomes] |
| rs4841474 | 0.81[EUR][1000 genomes] |
| rs4841476 | 0.83[EUR][1000 genomes] |
| rs56278516 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs61427182 | 0.82[EUR][1000 genomes] |
| rs6990395 | 0.83[EUR][1000 genomes] |
| rs7016361 | 0.83[EUR][1000 genomes] |
| rs73196884 | 0.82[EUR][1000 genomes] |
| rs73196885 | 0.82[EUR][1000 genomes] |
| rs7824797 | 0.81[EUR][1000 genomes] |
| rs7826561 | 0.81[EUR][1000 genomes] |
| rs7836687 | 0.82[EUR][1000 genomes] |
| rs7836720 | 0.81[EUR][1000 genomes] |
| rs7837828 | 0.81[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1035072 | chr8:10819444-11480692 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 50 gene(s) | inside rSNPs | diseases |
| 2 | nsv539473 | chr8:10819444-11480692 | Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 50 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs56319439 | C8orf5 | Cis_1M | lymphoblastoid | RTeQTL |
| rs56319439 | BLK | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:10846800-10850200 | Weak transcription | Right Atrium | heart |
