Variant report
| Variant | rs1407200 |
|---|---|
| Chromosome Location | chr6:72366400-72366401 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:72364309..72367260-chr6:72370089..72372248,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs11751413 | 0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs11755205 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs11756168 | 0.92[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs11758536 | 0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs12528750 | 0.80[CHB][hapmap] |
| rs1486608 | 0.92[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs1547046 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs1889276 | 0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1889277 | 0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs272244 | 0.89[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs34273564 | 0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs67041987 | 0.92[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs6912835 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs6918162 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs72938847 | 0.89[EUR][1000 genomes] |
| rs7743293 | 0.86[CHB][hapmap] |
| rs7754979 | 0.92[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs7775155 | 0.91[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs9446440 | 0.80[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs9446441 | 0.83[AMR][1000 genomes];0.81[EUR][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 | 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 |
| 2 | nsv830686 | chr6:72336896-72534267 | Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1407200 | RIMS1 | cis | Heart Left Ventricle | GTEx |
| rs1407200 | RIMS1 | cis | Muscle Skeletal | GTEx |
Chromatin state (count:0 , 50 per page) page:
| No data |
