Variant report
| Variant | rs7010719 |
|---|---|
| Chromosome Location | chr8:10836069-10836070 |
| 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] |
|---|---|
| rs10088408 | 0.85[EUR][1000 genomes] |
| rs10096381 | 0.83[EUR][1000 genomes] |
| rs10096421 | 0.93[EUR][1000 genomes] |
| rs10096511 | 0.84[EUR][1000 genomes] |
| rs10111950 | 0.83[EUR][1000 genomes] |
| rs11250097 | 0.87[EUR][1000 genomes] |
| rs11250098 | 0.83[EUR][1000 genomes] |
| rs11250099 | 0.86[EUR][1000 genomes] |
| rs34738102 | 0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs35910832 | 0.84[EUR][1000 genomes] |
| rs4285446 | 0.97[ASN][1000 genomes] |
| rs4314618 | 0.83[EUR][1000 genomes] |
| rs4451266 | 0.83[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs4451267 | 0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4841465 | 0.86[EUR][1000 genomes] |
| rs4841466 | 0.85[EUR][1000 genomes] |
| rs6601544 | 0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6996943 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7010262 | 0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7011106 | 0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7011268 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs7014861 | 0.99[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs73662659 | 0.95[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 | nsv521721 | chr8:10802102-10836472 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 2 | 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 |
| 3 | 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:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7010719 | C8orf13 | Cis_1M | lymphoblastoid | RTeQTL |
| rs7010719 | C8orf5 | Cis_1M | lymphoblastoid | RTeQTL |
| rs7010719 | BLK | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:10830200-10836200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 2 | chr8:10830200-10836400 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
