Variant report
| Variant | rs12608126 |
|---|---|
| Chromosome Location | chr18:28338995-28338996 |
| allele | C/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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr18:28331989..28334570-chr18:28337304..28339157,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs1943530 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs1943533 | 0.86[AFR][1000 genomes] |
| rs1943578 | 0.81[AFR][1000 genomes] |
| rs1943579 | 0.92[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs1943580 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs1943581 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs1943582 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2212962 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2591098 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2591100 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs2733115 | 0.82[AFR][1000 genomes] |
| rs2733134 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2850276 | 0.84[AFR][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 | nsv428675 | chr18:28278505-28444515 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 2 | nsv909514 | chr18:28321803-28420334 | Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 3 | esv3432762 | chr18:28337529-28340152 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | n/a |
| 4 | esv3338890 | chr18:28337804-28339602 | Weak transcription | Chromatin interactive region | n/a | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:28329000-28342800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
