Variant report
| Variant | rs12824549 |
|---|---|
| Chromosome Location | chr12:67627606-67627607 |
| 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 | chr12:67627502..67629526-chr12:67662531..67664420,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000111530 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:10)
| rs_ID | r2[population] |
|---|---|
| rs12815705 | 0.87[AMR][1000 genomes] |
| rs12825266 | 1.00[AMR][1000 genomes] |
| rs12833866 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs56320762 | 1.00[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs61919016 | 1.00[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs61919041 | 1.00[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs67547277 | 1.00[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs67739703 | 0.87[AMR][1000 genomes] |
| rs67752507 | 1.00[AMR][1000 genomes] |
| rs73128747 | 1.00[AMR][1000 genomes];0.82[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 | 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 |
| 3 | nsv1054111 | chr12:67556780-67865542 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
| 4 | nsv899218 | chr12:67612129-67643840 | Enhancers Flanking Active TSS Weak transcription Active TSS | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
