Variant report
| Variant | rs2408647 |
|---|---|
| Chromosome Location | chr12:47397276-47397277 |
| allele | C/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:26)
| rs_ID | r2[population] |
|---|---|
| rs10785649 | 0.87[EUR][1000 genomes] |
| rs10881023 | 0.87[EUR][1000 genomes] |
| rs10881025 | 0.83[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs11183695 | 0.87[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs11183699 | 0.84[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs11183711 | 0.81[EUR][1000 genomes] |
| rs1989912 | 0.87[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs2263492 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2522258 | 0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs2522263 | 0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs2522269 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs2522275 | 0.84[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs2522277 | 0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes] |
| rs2711695 | 0.87[EUR][1000 genomes] |
| rs2711699 | 0.85[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs2711702 | 0.84[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs34142537 | 0.87[AFR][1000 genomes] |
| rs4291756 | 0.80[ASN][1000 genomes] |
| rs4768769 | 0.87[EUR][1000 genomes] |
| rs7139072 | 0.84[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs7305283 | 0.84[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs7960974 | 0.87[AFR][1000 genomes] |
| rs7971310 | 0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs7972871 | 0.80[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs7978006 | 0.87[EUR][1000 genomes] |
| rs7979771 | 0.87[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv1845143 | chr12:47051076-47431496 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 2 | nsv469368 | chr12:47374908-47675680 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
| 3 | nsv558784 | chr12:47374908-47675680 | Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
| 4 | esv3367193 | chr12:47396135-47398083 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:47394800-47407800 | Weak transcription | HSMM | muscle |
