Variant report
| Variant | rs1588121 |
|---|---|
| Chromosome Location | chr2:189556547-189556548 |
| 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 | chr2:189469024..189471613-chr2:189556125..189558858,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:26)
| rs_ID | r2[population] |
|---|---|
| rs10173369 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1066766 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1092261 | 0.84[EUR][1000 genomes] |
| rs10931374 | 0.88[AMR][1000 genomes] |
| rs10931376 | 0.82[EUR][1000 genomes] |
| rs11676859 | 0.82[EUR][1000 genomes] |
| rs11686702 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs13011602 | 0.82[EUR][1000 genomes] |
| rs1354902 | 0.89[EUR][1000 genomes] |
| rs1395867 | 0.82[EUR][1000 genomes] |
| rs1395868 | 0.82[EUR][1000 genomes] |
| rs1507562 | 0.82[EUR][1000 genomes] |
| rs28448381 | 1.00[ASN][1000 genomes] |
| rs2882532 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs3935690 | 0.87[EUR][1000 genomes] |
| rs4146571 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs4666765 | 0.83[ASN][1000 genomes] |
| rs698552 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs698554 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs698556 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs698557 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7574550 | 0.83[ASN][1000 genomes] |
| rs7599978 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7603970 | 1.00[ASN][1000 genomes] |
| rs781454 | 0.84[EUR][1000 genomes] |
| rs955813 | 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 | nsv1003974 | chr2:189331760-189827814 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv1000932 | chr2:189542210-189677277 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv536088 | chr2:189542210-189677277 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | esv1842768 | chr2:189555506-189635696 | Enhancers Active TSS Weak transcription Flanking Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:189551000-189557200 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
| 2 | chr2:189555400-189560600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
