Variant report
| Variant | rs11168600 |
|---|---|
| Chromosome Location | chr12:48886097-48886098 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | POLR2A | chr12:48886005-48886242 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:48880500..48882865-chr12:48883478..48886344,3 | K562 | blood: | |
| 2 | chr12:48877425..48880282-chr12:48884726..48886278,2 | MCF-7 | breast: | |
| 3 | chr12:48882871..48884702-chr12:48885100..48887755,2 | K562 | blood: | |
| 4 | chr12:48880029..48882865-chr12:48884102..48887272,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| C12orf54 | TF binding region |
| ENSG00000177627 | Chromatin interaction |
| ENSG00000240443 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:8)
| rs_ID | r2[population] |
|---|---|
| rs11168684 | 1.00[GIH][hapmap] |
| rs12367792 | 1.00[ASN][1000 genomes] |
| rs34702987 | 1.00[ASN][1000 genomes] |
| rs35323818 | 1.00[ASN][1000 genomes] |
| rs36052726 | 1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73104702 | 1.00[ASN][1000 genomes] |
| rs7315024 | 1.00[ASN][1000 genomes] |
| rs7961622 | 1.00[ASN][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 | nsv427911 | chr12:48670336-48979396 | Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
| 2 | nsv975416 | chr12:48882416-48893049 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
