Variant report
| Variant | rs17094614 |
|---|---|
| Chromosome Location | chr12:44800235-44800236 |
| 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 | chr12:44782966..44785826-chr12:44799216..44800992,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:23)
| rs_ID | r2[population] |
|---|---|
| rs11182500 | 0.92[EUR][1000 genomes] |
| rs11610751 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs11611513 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11612006 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs11613516 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs1353144 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs17094591 | 0.98[EUR][1000 genomes] |
| rs17094655 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs1817884 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs1873977 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs1873979 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs55636254 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs56367710 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs57180808 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs7304503 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs73092522 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73092524 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7309287 | 0.96[EUR][1000 genomes] |
| rs73094350 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73094362 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs73094373 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs765530 | 0.96[EUR][1000 genomes] |
| rs869629 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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 | nsv1049818 | chr12:44486312-45133783 | Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv1038498 | chr12:44679455-44816572 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:44798600-44800400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 2 | chr12:44799600-44802400 | Weak transcription | H1 Cell Line | embryonic stem cell |
