Variant report
| Variant | rs11691356 |
|---|---|
| Chromosome Location | chr2:211822702-211822703 |
| allele | C/T |
| 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:23)
| rs_ID | r2[population] |
|---|---|
| rs11682881 | 0.92[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs11684203 | 1.00[ASN][1000 genomes] |
| rs11687884 | 0.82[EUR][1000 genomes] |
| rs11695853 | 0.82[EUR][1000 genomes] |
| rs1346709 | 0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1346710 | 0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1821822 | 0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1991564 | 0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1992126 | 0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs319742 | 1.00[ASN][1000 genomes] |
| rs319744 | 1.00[ASN][1000 genomes] |
| rs4600582 | 1.00[ASN][1000 genomes] |
| rs4605308 | 1.00[ASN][1000 genomes] |
| rs56856797 | 0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs59222347 | 0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs59242499 | 0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs60978506 | 0.85[AFR][1000 genomes];0.89[AMR][1000 genomes] |
| rs72947274 | 0.81[EUR][1000 genomes] |
| rs72949240 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7567005 | 0.81[EUR][1000 genomes] |
| rs7567105 | 0.81[EUR][1000 genomes] |
| rs796245 | 1.00[ASN][1000 genomes] |
| rs809482 | 0.80[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 | nsv536136 | chr2:211497528-211830019 | Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 2 | nsv1012193 | chr2:211684524-212072213 | Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv584310 | chr2:211807729-211870954 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11691356 | PTH2R | cis | cerebellum | SCAN |
| rs11691356 | CCNYL1 | cis | parietal | SCAN |
| rs11691356 | CPS1IT1 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:211820400-211822800 | Weak transcription | HepG2 | liver |
| 2 | chr2:211821200-211826000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
