Variant report
| Variant | rs1503048 |
|---|---|
| Chromosome Location | chr17:50238467-50238468 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:36)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:36 , 50 per page) page:
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| Variant related genes | Relation type |
|---|---|
| CA10 | TF binding region |
rSNPs within LD-proxies of this variant (count:9)
| rs_ID | r2[population] |
|---|---|
| rs1393729 | 1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs1393734 | 0.86[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs2970051 | 1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs2970053 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs2970054 | 0.90[ASN][1000 genomes] |
| rs2970055 | 1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs2970056 | 0.90[ASN][1000 genomes] |
| rs9910483 | 0.93[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs9914711 | 0.91[AMR][1000 genomes];0.88[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv492317 | chr17:50067819-50774475 | Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr17:50237200-50240600 | Weak transcription | Pancreas | Pancrea |
