Variant report
| Variant | rs12653995 |
|---|---|
| Chromosome Location | chr5:90552044-90552045 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000113369 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:27)
| rs_ID | r2[population] |
|---|---|
| rs10474341 | 0.95[ASN][1000 genomes] |
| rs12188638 | 0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs12514996 | 0.85[ASN][1000 genomes] |
| rs12515116 | 0.88[ASN][1000 genomes] |
| rs12520306 | 0.95[ASN][1000 genomes] |
| rs12658748 | 0.90[ASN][1000 genomes] |
| rs16869618 | 0.88[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs2175437 | 0.84[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs56316727 | 0.96[ASN][1000 genomes] |
| rs56377435 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs56876862 | 0.81[ASN][1000 genomes] |
| rs58781250 | 0.86[ASN][1000 genomes] |
| rs72786311 | 0.95[ASN][1000 genomes] |
| rs72786312 | 0.88[ASN][1000 genomes] |
| rs72786318 | 0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs72786321 | 0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72786324 | 0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72786325 | 0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72786326 | 0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72786329 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72786331 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs72786332 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs72786338 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs72786350 | 0.91[ASN][1000 genomes] |
| rs72786353 | 0.86[ASN][1000 genomes] |
| rs72786354 | 0.86[ASN][1000 genomes] |
| rs9647558 | 0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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 | nsv1024813 | chr5:90321535-90870739 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 84 gene(s) | inside rSNPs | diseases |
| 2 | nsv537806 | chr5:90321535-90870739 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 84 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:90549000-90553000 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 2 | chr5:90551600-90552400 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
