Variant report
| Variant | rs17082934 |
|---|---|
| Chromosome Location | chr5:92449951-92449952 |
| allele | C/T |
| 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 | chr5:92449412..92451915-chr5:92457992..92460687,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs11958890 | 0.81[AFR][1000 genomes] |
| rs1603407 | 0.81[AFR][1000 genomes] |
| rs17082927 | 0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs17082959 | 0.97[EUR][1000 genomes] |
| rs4526087 | 0.97[EUR][1000 genomes] |
| rs55971857 | 0.84[AFR][1000 genomes] |
| rs61453097 | 0.86[AFR][1000 genomes];0.97[EUR][1000 genomes] |
| rs6557062 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs6879703 | 0.85[EUR][1000 genomes] |
| rs72782697 | 0.97[EUR][1000 genomes] |
| rs7701217 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs7706791 | 0.83[EUR][1000 genomes] |
| rs7737511 | 0.96[EUR][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 | nsv1015770 | chr5:91911877-92498264 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 2 | nsv830399 | chr5:92290915-92462490 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv1029175 | chr5:92436038-92548473 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs17082934 | RHOBTB3 | cis | parietal | SCAN |
| rs17082934 | NR2F1 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:92443800-92450800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
