Variant report
| Variant | rs2718812 |
|---|---|
| Chromosome Location | chr3:133399702-133399703 |
| allele | A/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:23)
| rs_ID | r2[population] |
|---|---|
| rs11924101 | 0.93[GIH][hapmap] |
| rs12497513 | 0.91[GIH][hapmap] |
| rs1822744 | 0.93[GIH][hapmap] |
| rs1867502 | 0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs1867503 | 0.80[ASN][1000 genomes] |
| rs1867504 | 0.80[ASN][1000 genomes] |
| rs1867505 | 0.80[ASN][1000 genomes] |
| rs2589267 | 0.96[ASN][1000 genomes] |
| rs2589269 | 0.80[ASN][1000 genomes] |
| rs2589274 | 0.97[ASN][1000 genomes] |
| rs2589275 | 0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2718809 | 0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2718811 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs2718813 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2718814 | 0.97[ASN][1000 genomes] |
| rs2718815 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2953740 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs35787332 | 0.97[ASN][1000 genomes] |
| rs4359807 | 0.96[ASN][1000 genomes] |
| rs4557155 | 0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs4854741 | 0.97[ASN][1000 genomes] |
| rs7626210 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7628607 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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 | nsv516081 | chr3:133399702-133412094 | Weak transcription Enhancers ZNF genes & repeats | TF binding region | 1 gene(s) | inside rSNPs | diseases |
Variant related diseases (count:1)
| Disease | PMID | Source |
|---|---|---|
| Iron status biomarkers | 19084217 | GWAS catalog |
mRNA abundance (count:4)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2718812 | C6orf145 | trans | cerebellum | SCAN |
| rs2718812 | TOPBP1 | cis | parietal | SCAN |
| rs2718812 | EPHB1 | cis | parietal | SCAN |
| rs2718812 | SOX14 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:133393800-133406800 | Weak transcription | Brain Substantia Nigra | brain |
