Variant report
| Variant | rs12529063 |
|---|---|
| Chromosome Location | chr6:72293855-72293856 |
| allele | C/T |
| 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 |
|---|---|
| ENSG00000171345 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs11751413 | 0.82[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs11755205 | 0.80[EUR][1000 genomes] |
| rs11756168 | 0.85[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs11758536 | 0.80[EUR][1000 genomes] |
| rs12528750 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1486596 | 0.82[CEU][hapmap];0.80[EUR][1000 genomes] |
| rs1486608 | 0.85[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs169210 | 0.82[CEU][hapmap] |
| rs1889276 | 0.82[EUR][1000 genomes] |
| rs1889277 | 0.82[EUR][1000 genomes] |
| rs199630 | 0.82[CEU][hapmap] |
| rs199632 | 0.81[CEU][hapmap] |
| rs67041987 | 0.85[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs72938847 | 0.82[EUR][1000 genomes] |
| rs7743293 | 0.82[CHB][hapmap];0.91[JPT][hapmap] |
| rs7754979 | 0.85[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs7775155 | 0.84[EUR][1000 genomes];0.86[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv830685 | chr6:72244007-72410757 | Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12529063 | RIMS1 | cis | Heart Left Ventricle | GTEx |
| rs12529063 | RIMS1 | cis | Muscle Skeletal | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:72289400-72295400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
