Variant report
| Variant | rs12728309 |
|---|---|
| Chromosome Location | chr1:184278543-184278544 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:32)
| rs_ID | r2[population] |
|---|---|
| rs1024298 | 0.90[EUR][1000 genomes] |
| rs1024299 | 0.90[EUR][1000 genomes] |
| rs1024300 | 0.90[EUR][1000 genomes] |
| rs10911556 | 0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10911557 | 0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10911560 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12059311 | 1.00[ASN][1000 genomes] |
| rs12069709 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12074351 | 1.00[ASN][1000 genomes] |
| rs12079075 | 0.95[EUR][1000 genomes] |
| rs12079081 | 0.94[EUR][1000 genomes] |
| rs12096575 | 0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12117439 | 0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12117567 | 0.84[EUR][1000 genomes] |
| rs12401350 | 0.81[EUR][1000 genomes] |
| rs12403673 | 0.92[EUR][1000 genomes] |
| rs12727053 | 0.84[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12727591 | 0.89[EUR][1000 genomes] |
| rs1318406 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1930291 | 0.90[EUR][1000 genomes] |
| rs2161986 | 0.90[EUR][1000 genomes] |
| rs34110117 | 0.84[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs34782871 | 0.85[EUR][1000 genomes] |
| rs36020636 | 0.88[EUR][1000 genomes] |
| rs4263963 | 0.92[EUR][1000 genomes] |
| rs4618934 | 0.89[EUR][1000 genomes] |
| rs4651196 | 0.88[AFR][1000 genomes];0.92[EUR][1000 genomes] |
| rs57757593 | 0.90[EUR][1000 genomes] |
| rs66536948 | 1.00[ASN][1000 genomes] |
| rs7529843 | 0.89[EUR][1000 genomes] |
| rs9645302 | 0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs984419 | 0.90[EUR][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 | nsv530079 | chr1:183797938-184639971 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:184268200-184279400 | Weak transcription | Pancreas | Pancrea |
| 2 | chr1:184277800-184280000 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
