Variant report
| Variant | rs8098127 |
|---|---|
| Chromosome Location | chr18:27913203-27913204 |
| 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:8)
| rs_ID | r2[population] |
|---|---|
| rs28645202 | 0.96[ASN][1000 genomes] |
| rs34641465 | 0.91[EUR][1000 genomes] |
| rs8097322 | 0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9944594 | 0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs9953434 | 0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9957140 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs9962388 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9962704 | 0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1057946 | chr18:27239754-28146129 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription | Chromatin interactive regionlncRNAmiRNA | 1 gene(s) | inside rSNPs | diseases |
| 2 | nsv576600 | chr18:27423375-28197518 | Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers | Chromatin interactive regionlncRNAmiRNA | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv909501 | chr18:27797293-27976234 | Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription | Chromatin interactive regionlncRNAmiRNA | n/a | inside rSNPs | diseases |
| 4 | nsv909503 | chr18:27819663-27935931 | Enhancers Weak transcription ZNF genes & repeats | Chromatin interactive regionmiRNA | n/a | inside rSNPs | diseases |
| 5 | nsv909504 | chr18:27819663-27959102 | Enhancers Weak transcription ZNF genes & repeats | Chromatin interactive regionlncRNAmiRNA | n/a | inside rSNPs | diseases |
| 6 | nsv909505 | chr18:27836611-27959102 | Enhancers Weak transcription ZNF genes & repeats | Chromatin interactive regionlncRNAmiRNA | n/a | inside rSNPs | diseases |
| 7 | nsv576626 | chr18:27853483-27921936 | Enhancers Weak transcription | Chromatin interactive regionmiRNA | n/a | inside rSNPs | diseases |
| 8 | nsv909506 | chr18:27858581-27959102 | Enhancers Weak transcription ZNF genes & repeats | Chromatin interactive regionlncRNAmiRNA | n/a | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs8098127 | RNF138 | cis | cerebellum | SCAN |
| rs8098127 | DSC3 | cis | cerebellum | SCAN |
| rs8098127 | DSG1 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:27912800-27915000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
