Variant report
| Variant | rs1495034 |
|---|---|
| Chromosome Location | chr12:45414203-45414204 |
| 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:24)
| rs_ID | r2[population] |
|---|---|
| rs10880718 | 0.85[EUR][1000 genomes] |
| rs10880730 | 0.94[EUR][1000 genomes] |
| rs11182810 | 0.85[EUR][1000 genomes] |
| rs11182811 | 0.86[EUR][1000 genomes] |
| rs1118481 | 0.84[EUR][1000 genomes] |
| rs1224436 | 0.90[EUR][1000 genomes] |
| rs1495033 | 0.84[EUR][1000 genomes] |
| rs1495035 | 0.95[EUR][1000 genomes] |
| rs1495036 | 0.95[EUR][1000 genomes] |
| rs1495042 | 0.88[EUR][1000 genomes] |
| rs1857924 | 0.81[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs1857925 | 0.81[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs1857926 | 0.84[EUR][1000 genomes] |
| rs2408140 | 0.93[EUR][1000 genomes] |
| rs2544102 | 0.87[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs2643140 | 0.85[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs2731040 | 0.84[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs2731053 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs2731054 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs4140696 | 0.84[EUR][1000 genomes] |
| rs4285943 | 0.94[EUR][1000 genomes] |
| rs4561266 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7963606 | 0.83[EUR][1000 genomes] |
| rs7964973 | 0.95[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3351644 | chr12:45345597-45529449 | Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv1045857 | chr12:45351172-45468784 | Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv541485 | chr12:45351172-45468784 | Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1495034 | DBX2 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs1495034 | RP11-478B9.2 | cis | Skin Sun Exposed Lower leg | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:45414000-45414400 | ZNF genes & repeats | Cortex derived primary cultured neurospheres | brain |
| 2 | chr12:45414200-45414400 | ZNF genes & repeats | Ganglion Eminence derived primary cultured neurospheres | brain |
