Variant report
| Variant | rs1995395 |
|---|---|
| Chromosome Location | chr3:135219780-135219781 |
| allele | A/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:28)
| rs_ID | r2[population] |
|---|---|
| rs1002893 | 1.00[ASN][1000 genomes] |
| rs10935170 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs11706224 | 0.97[ASN][1000 genomes] |
| rs11709770 | 0.97[ASN][1000 genomes] |
| rs11712517 | 1.00[ASN][1000 genomes] |
| rs11712634 | 1.00[ASN][1000 genomes] |
| rs13089590 | 0.83[ASN][1000 genomes] |
| rs1393320 | 0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1393321 | 1.00[ASN][1000 genomes] |
| rs1526932 | 0.97[ASN][1000 genomes] |
| rs1526933 | 0.91[ASN][1000 genomes] |
| rs1526942 | 1.00[ASN][1000 genomes] |
| rs16843013 | 0.89[ASN][1000 genomes] |
| rs1995394 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs36122071 | 1.00[ASN][1000 genomes] |
| rs6439567 | 1.00[ASN][1000 genomes] |
| rs6439568 | 0.97[ASN][1000 genomes] |
| rs6789221 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6810277 | 0.97[ASN][1000 genomes] |
| rs711963 | 0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs711965 | 0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs732448 | 1.00[ASN][1000 genomes] |
| rs7631497 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7638885 | 1.00[ASN][1000 genomes] |
| rs7652975 | 0.87[ASN][1000 genomes] |
| rs824080 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs824095 | 0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs931754 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv460860 | chr3:135107678-135769006 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 2 | nsv591829 | chr3:135107678-135769006 | Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1995395 | AMOTL2 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:135210200-135221400 | Weak transcription | Fetal Brain Male | brain |
| 2 | chr3:135210600-135222600 | Weak transcription | Psoas Muscle | Psoas |
