Variant report
| Variant | rs59907388 |
|---|---|
| Chromosome Location | chr12:44860640-44860641 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:44859579..44861240-chr12:44861632..44863471,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs10467198 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11182503 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12300006 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12301186 | 1.00[AMR][1000 genomes] |
| rs12304363 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12308192 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12310486 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12311300 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12322750 | 1.00[AMR][1000 genomes] |
| rs1493757 | 1.00[AMR][1000 genomes] |
| rs56009337 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs57316311 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs60037016 | 1.00[AMR][1000 genomes] |
| rs60810059 | 1.00[AMR][1000 genomes] |
| rs61334019 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs74085006 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs74085037 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs74085043 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs74085152 | 1.00[AMR][1000 genomes] |
| rs74087530 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs9971775 | 1.00[AFR][1000 genomes];1.00[AMR][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 | 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 |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:44858600-44861200 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
