Variant report
| Variant | rs2676648 |
|---|---|
| Chromosome Location | chr8:69295941-69295942 |
| allele | C/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:30)
| rs_ID | r2[population] |
|---|---|
| rs12541312 | 1.00[JPT][hapmap] |
| rs12545937 | 0.96[ASN][1000 genomes] |
| rs1517129 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes] |
| rs1517130 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes] |
| rs16919092 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes] |
| rs16934487 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes] |
| rs16934503 | 0.91[ASN][1000 genomes] |
| rs16934507 | 0.91[ASN][1000 genomes] |
| rs16934510 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes] |
| rs1867633 | 0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes] |
| rs1980177 | 1.00[JPT][hapmap] |
| rs2255882 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes] |
| rs2591019 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes] |
| rs2591020 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes] |
| rs2676633 | 1.00[JPT][hapmap] |
| rs2676649 | 0.96[ASN][1000 genomes] |
| rs2676650 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes] |
| rs2676652 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes] |
| rs2676654 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes] |
| rs2676656 | 0.96[ASN][1000 genomes] |
| rs2944715 | 1.00[JPT][hapmap] |
| rs3812450 | 1.00[JPT][hapmap] |
| rs58125593 | 0.84[ASN][1000 genomes] |
| rs59003086 | 0.91[ASN][1000 genomes] |
| rs59098392 | 0.86[ASN][1000 genomes] |
| rs59134336 | 0.86[ASN][1000 genomes] |
| rs59670612 | 0.91[ASN][1000 genomes] |
| rs61152394 | 0.86[ASN][1000 genomes] |
| rs6999119 | 1.00[JPT][hapmap] |
| rs7000104 | 1.00[JPT][hapmap] |
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 | nsv1028889 | chr8:69026806-69308725 | Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv948687 | chr8:69041121-69642540 | Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 3 | nsv1031040 | chr8:69265471-69315554 | Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 4 | nsv508512 | chr8:69268794-69324532 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2676648 | C8orf34 | cis | cerebellar cortex | BrainEAC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:69295600-69297000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr8:69295600-69299000 | Enhancers | Fetal Lung | lung |
| 3 | chr8:69295800-69296200 | Enhancers | Aorta | Aorta |
