Variant report
| Variant | rs11949387 |
|---|---|
| Chromosome Location | chr5:112835295-112835296 |
| 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 | chr5:112834953..112836770-chr5:112849489..112851094,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000047188 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs11948187 | 1.00[EUR][1000 genomes] |
| rs11948413 | 1.00[EUR][1000 genomes] |
| rs11948437 | 1.00[EUR][1000 genomes] |
| rs11948446 | 1.00[EUR][1000 genomes] |
| rs11948538 | 1.00[EUR][1000 genomes] |
| rs11948830 | 1.00[EUR][1000 genomes] |
| rs11949669 | 1.00[EUR][1000 genomes] |
| rs11950791 | 1.00[EUR][1000 genomes] |
| rs11953559 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11954798 | 1.00[EUR][1000 genomes] |
| rs11955591 | 1.00[EUR][1000 genomes] |
| rs11956234 | 1.00[EUR][1000 genomes] |
| rs11956800 | 1.00[EUR][1000 genomes] |
| rs11959532 | 1.00[EUR][1000 genomes] |
| rs11959955 | 1.00[EUR][1000 genomes] |
| rs34161832 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs58548907 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs59007160 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs59149164 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs59757131 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs61341835 | 1.00[EUR][1000 genomes] |
| rs6876863 | 1.00[AMR][1000 genomes] |
| rs7729214 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7731164 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv599396 | chr5:112408944-112853189 | Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:112827200-112840400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
