Variant report
| Variant | rs12467847 |
|---|---|
| Chromosome Location | chr2:113691404-113691405 |
| 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:31)
| rs_ID | r2[population] |
|---|---|
| rs11683383 | 0.91[ASN][1000 genomes] |
| rs11690185 | 0.91[ASN][1000 genomes] |
| rs11695077 | 0.91[ASN][1000 genomes] |
| rs11696039 | 0.91[ASN][1000 genomes] |
| rs12105482 | 0.90[ASN][1000 genomes] |
| rs12464758 | 0.91[ASN][1000 genomes] |
| rs12465526 | 0.91[ASN][1000 genomes] |
| rs12466604 | 0.91[ASN][1000 genomes] |
| rs12466653 | 0.91[ASN][1000 genomes] |
| rs12466697 | 0.90[ASN][1000 genomes] |
| rs12467810 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12470439 | 0.91[ASN][1000 genomes] |
| rs12614316 | 0.91[ASN][1000 genomes] |
| rs12614988 | 0.91[ASN][1000 genomes] |
| rs12618418 | 0.90[ASN][1000 genomes] |
| rs12623837 | 0.91[ASN][1000 genomes] |
| rs12993351 | 0.91[ASN][1000 genomes] |
| rs12995439 | 0.91[ASN][1000 genomes] |
| rs13026837 | 0.91[ASN][1000 genomes] |
| rs1317913 | 0.87[ASN][1000 genomes] |
| rs2708931 | 0.88[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs34027384 | 0.91[ASN][1000 genomes] |
| rs4387792 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs4848309 | 0.89[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs66591921 | 0.90[ASN][1000 genomes] |
| rs6705432 | 0.91[ASN][1000 genomes] |
| rs6722962 | 0.91[ASN][1000 genomes] |
| rs6723197 | 0.91[ASN][1000 genomes] |
| rs6733001 | 0.91[ASN][1000 genomes] |
| rs6733003 | 0.91[ASN][1000 genomes] |
| rs67995749 | 0.91[ASN][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 | nsv961338 | chr2:113657963-113691422 | Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv532471 | chr2:113682449-113862981 | ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
| 3 | nsv997348 | chr2:113688093-113986508 | Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
Variant related diseases (count:1)
| Disease | PMID | Source |
|---|---|---|
| Response to amphetamines | 22952603 | GWAS catalog |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:113691000-113693000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 2 | chr2:113691400-113692200 | Weak transcription | Fetal Intestine Small | intestine |
