Variant report
| Variant | rs28696763 |
|---|---|
| Chromosome Location | chr14:70744696-70744697 |
| allele | A/G |
| 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:25)
| rs_ID | r2[population] |
|---|---|
| rs12879701 | 0.81[EUR][1000 genomes] |
| rs12880065 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs12889575 | 0.93[EUR][1000 genomes] |
| rs12889618 | 0.81[EUR][1000 genomes] |
| rs12890852 | 0.81[EUR][1000 genomes] |
| rs12891402 | 0.81[EUR][1000 genomes] |
| rs12897297 | 0.81[EUR][1000 genomes] |
| rs12898006 | 0.81[EUR][1000 genomes] |
| rs17474359 | 0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs28380137 | 0.91[AFR][1000 genomes] |
| rs28437734 | 0.91[AFR][1000 genomes] |
| rs28617626 | 0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs34506335 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs34668417 | 0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs34981619 | 0.81[EUR][1000 genomes] |
| rs35034872 | 0.93[EUR][1000 genomes] |
| rs35224988 | 0.81[EUR][1000 genomes] |
| rs35543989 | 0.81[EUR][1000 genomes] |
| rs35547503 | 0.87[EUR][1000 genomes] |
| rs35660795 | 1.00[ASN][1000 genomes] |
| rs35697534 | 0.87[EUR][1000 genomes] |
| rs55812665 | 0.81[EUR][1000 genomes] |
| rs61979508 | 1.00[ASN][1000 genomes] |
| rs72733725 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72733739 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv902075 | chr14:70612618-70919016 | Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs28696763 | COX16 | cis | Muscle Skeletal | GTEx |
| rs28696763 | RP11-718G2.3 | cis | Muscle Skeletal | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:70735800-70749200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 2 | chr14:70744200-70746800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
