Variant report
| Variant | rs11835640 |
|---|---|
| Chromosome Location | chr12:48891229-48891230 |
| allele | A/G |
| 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 | chr12:48888880..48891853-chr12:48895392..48897603,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs11168601 | 0.86[AFR][1000 genomes] |
| rs11829869 | 0.81[AFR][1000 genomes] |
| rs11832311 | 0.81[AFR][1000 genomes] |
| rs11835645 | 0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs17123105 | 0.86[AFR][1000 genomes] |
| rs17123106 | 0.86[AFR][1000 genomes] |
| rs17123108 | 0.86[AFR][1000 genomes] |
| rs17123135 | 0.83[AMR][1000 genomes] |
| rs2068293 | 0.86[AFR][1000 genomes] |
| rs2705133 | 0.87[ASN][1000 genomes] |
| rs4265629 | 0.86[AFR][1000 genomes] |
| rs4344535 | 0.82[AFR][1000 genomes] |
| rs4500527 | 0.81[AFR][1000 genomes] |
| rs4620769 | 0.82[AFR][1000 genomes] |
| rs57022528 | 0.97[AFR][1000 genomes];0.94[AMR][1000 genomes] |
| rs57809090 | 0.83[AMR][1000 genomes] |
| rs60756250 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61227501 | 0.97[AFR][1000 genomes];0.94[AMR][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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:48887000-48891800 | Weak transcription | Brain Hippocampus Middle | brain |
