Variant report
| Variant | rs1867502 |
|---|---|
| Chromosome Location | chr3:133410625-133410626 |
| allele | A/C |
| 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:19)
| rs_ID | r2[population] |
|---|---|
| rs11924101 | 0.93[GIH][hapmap] |
| rs12497513 | 0.91[GIH][hapmap] |
| rs1822744 | 0.93[GIH][hapmap] |
| rs2589267 | 1.00[ASN][1000 genomes] |
| rs2589274 | 0.99[ASN][1000 genomes] |
| rs2589275 | 0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2718809 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs2718811 | 0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs2718812 | 0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2718813 | 0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2718814 | 0.99[ASN][1000 genomes] |
| rs2718815 | 0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2953740 | 0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs35787332 | 0.98[ASN][1000 genomes] |
| rs4359807 | 0.97[ASN][1000 genomes] |
| rs4557155 | 0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs4854741 | 0.99[ASN][1000 genomes] |
| rs7626210 | 0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs7628607 | 0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 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 |
| 2 | nsv979783 | chr3:133408825-133413260 | Weak transcription Active TSS Enhancers | n/a | n/a | inside rSNPs | diseases |
mRNA abundance (count:4)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1867502 | EPHB1 | cis | parietal | SCAN |
| rs1867502 | C6orf145 | trans | cerebellum | SCAN |
| rs1867502 | SOX14 | cis | parietal | SCAN |
| rs1867502 | TOPBP1 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:133410200-133410800 | Enhancers | HepG2 | liver |
