Variant report
| Variant | rs11837971 |
|---|---|
| Chromosome Location | chr12:47399239-47399240 |
| allele | G/T |
| 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 | chr12:47392715..47394809-chr12:47397505..47399987,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs11830134 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11831850 | 0.82[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11831873 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11831875 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11832337 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11832659 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11832794 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11833082 | 1.00[AMR][1000 genomes] |
| rs11834043 | 0.93[AFR][1000 genomes] |
| rs11838200 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2263491 | 1.00[EUR][1000 genomes] |
| rs2408641 | 1.00[EUR][1000 genomes] |
| rs2465199 | 1.00[EUR][1000 genomes] |
| rs2465598 | 1.00[EUR][1000 genomes] |
| rs56659216 | 1.00[EUR][1000 genomes] |
| rs57427131 | 1.00[EUR][1000 genomes] |
| rs59103064 | 1.00[EUR][1000 genomes] |
| rs59180973 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs59974672 | 1.00[EUR][1000 genomes] |
| rs60934936 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs854894 | 1.00[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 | nsv983436 | chr12:47398417-47411538 | Weak transcription Enhancers Flanking Active TSS Active TSS | Chromatin interactive region | 2 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:47394800-47407800 | Weak transcription | HSMM | muscle |
| 2 | chr12:47397800-47401200 | Enhancers | Liver | Liver |
