Variant report
| Variant | rs2722172 |
|---|---|
| Chromosome Location | chr12:104312495-104312496 |
| allele | C/G |
| 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:17)
| rs_ID | r2[population] |
|---|---|
| rs1007652 | 0.88[AMR][1000 genomes] |
| rs10745985 | 0.88[EUR][1000 genomes] |
| rs1165595 | 0.88[EUR][1000 genomes] |
| rs1165667 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs1165671 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs1165679 | 1.00[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs1165683 | 1.00[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs1866075 | 0.81[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs2576956 | 0.91[EUR][1000 genomes] |
| rs2576959 | 0.91[EUR][1000 genomes] |
| rs2576968 | 0.91[EUR][1000 genomes] |
| rs2576971 | 0.81[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs2576976 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2919806 | 1.00[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs71466284 | 0.86[EUR][1000 genomes] |
| rs9669259 | 0.88[EUR][1000 genomes] |
| rs9669708 | 0.88[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 | nsv560039 | chr12:104177668-104455340 | Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 63 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:4)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2722172 | MIR3652 | cis | Artery Tibial | GTEx |
| rs2722172 | MIR3652 | cis | Adipose Subcutaneous | GTEx |
| rs2722172 | MIR3652 | cis | Esophagus Muscularis | GTEx |
| rs2722172 | MIR3652 | cis | Thyroid | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:104306200-104320800 | Weak transcription | Psoas Muscle | Psoas |
