Variant report
| Variant | rs12307731 |
|---|---|
| Chromosome Location | chr12:67551731-67551732 |
| allele | C/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 | chr12:67549299..67551847-chr12:67661630..67663905,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000111530 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs12298847 | 1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12300697 | 0.81[EUR][1000 genomes] |
| rs12301566 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12308753 | 0.81[EUR][1000 genomes] |
| rs12313438 | 1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs12314779 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs1437496 | 0.81[EUR][1000 genomes] |
| rs1437497 | 0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs17184007 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs17184028 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs17781466 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs58467483 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs60117312 | 0.81[EUR][1000 genomes] |
| rs61918971 | 0.81[EUR][1000 genomes] |
| rs61918973 | 0.81[EUR][1000 genomes] |
| rs61918975 | 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 | nsv541524 | chr12:67311057-67700349 | Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
| 2 | nsv559212 | chr12:67373549-67850925 | Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
