Variant report
| Variant | rs12494857 |
|---|---|
| Chromosome Location | chr3:56409134-56409135 |
| 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:40)
| rs_ID | r2[population] |
|---|---|
| rs1078309 | 0.80[EUR][1000 genomes] |
| rs1078310 | 0.80[EUR][1000 genomes] |
| rs11926826 | 0.80[EUR][1000 genomes] |
| rs12486948 | 0.80[EUR][1000 genomes] |
| rs12490280 | 0.80[EUR][1000 genomes] |
| rs12492055 | 0.80[EUR][1000 genomes] |
| rs12492253 | 0.80[EUR][1000 genomes] |
| rs12496048 | 1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs17056646 | 0.80[EUR][1000 genomes] |
| rs17288728 | 0.86[EUR][1000 genomes] |
| rs17732598 | 0.80[EUR][1000 genomes] |
| rs2167617 | 0.88[EUR][1000 genomes] |
| rs35431468 | 0.80[EUR][1000 genomes] |
| rs35995295 | 0.94[EUR][1000 genomes] |
| rs4974120 | 0.80[EUR][1000 genomes] |
| rs4974121 | 0.80[EUR][1000 genomes] |
| rs4974123 | 0.80[EUR][1000 genomes] |
| rs4974130 | 0.88[EUR][1000 genomes] |
| rs4974176 | 0.80[EUR][1000 genomes] |
| rs4974179 | 0.80[EUR][1000 genomes] |
| rs4974180 | 0.80[EUR][1000 genomes] |
| rs4974196 | 0.94[EUR][1000 genomes] |
| rs55849756 | 0.80[EUR][1000 genomes] |
| rs56004380 | 0.88[EUR][1000 genomes] |
| rs58413645 | 0.88[EUR][1000 genomes] |
| rs59079055 | 0.80[EUR][1000 genomes] |
| rs60383545 | 0.80[EUR][1000 genomes] |
| rs60384923 | 0.80[EUR][1000 genomes] |
| rs6782034 | 0.80[EUR][1000 genomes] |
| rs6783356 | 0.80[EUR][1000 genomes] |
| rs6786058 | 0.80[EUR][1000 genomes] |
| rs6789409 | 0.88[EUR][1000 genomes] |
| rs6803165 | 0.80[EUR][1000 genomes] |
| rs6804221 | 0.80[EUR][1000 genomes] |
| rs71309946 | 0.86[EUR][1000 genomes] |
| rs73834604 | 0.80[EUR][1000 genomes] |
| rs755321 | 0.80[EUR][1000 genomes] |
| rs7613726 | 0.80[EUR][1000 genomes] |
| rs7650293 | 0.80[EUR][1000 genomes] |
| rs977313 | 0.80[EUR][1000 genomes] |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12494857 | GNAQ | trans | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:56390800-56410000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 2 | chr3:56406400-56409800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr3:56408000-56409800 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
