Variant report
| Variant | rs9962968 |
|---|---|
| Chromosome Location | chr18:30474276-30474277 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr18:30414875..30417586-chr18:30473319..30475920,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000263765 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs10853423 | 1.00[JPT][hapmap] |
| rs12954449 | 1.00[JPT][hapmap] |
| rs16963902 | 1.00[JPT][hapmap] |
| rs1893246 | 1.00[JPT][hapmap] |
| rs1941254 | 1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes] |
| rs1941281 | 1.00[JPT][hapmap] |
| rs1941282 | 1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap] |
| rs1941283 | 1.00[JPT][hapmap] |
| rs4411577 | 0.88[AFR][1000 genomes] |
| rs8097557 | 1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes] |
| rs8098125 | 1.00[JPT][hapmap] |
| rs948368 | 1.00[JPT][hapmap] |
| rs9950067 | 0.88[AFR][1000 genomes] |
| rs9952405 | 1.00[JPT][hapmap] |
| rs9966484 | 1.00[JPT][hapmap] |
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 | esv2758474 | chr18:30383327-30574737 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 2 | esv2758720 | chr18:30383327-30574737 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv2250 | chr18:30473758-30505927 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs9962968 | DHRS1 | trans | lymphoblastoid | seeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:30469800-30475200 | Weak transcription | Pancreas | Pancrea |
