Variant report
| Variant | rs2043221 |
|---|---|
| Chromosome Location | chr7:14465892-14465893 |
| 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:28)
| rs_ID | r2[population] |
|---|---|
| rs11761424 | 0.91[CHB][hapmap];0.87[ASN][1000 genomes] |
| rs12111648 | 0.99[ASN][1000 genomes] |
| rs12532234 | 0.99[ASN][1000 genomes] |
| rs12535778 | 0.92[ASN][1000 genomes] |
| rs12536559 | 0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes] |
| rs12536670 | 0.95[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes] |
| rs12540165 | 0.98[ASN][1000 genomes] |
| rs13232324 | 0.96[ASN][1000 genomes] |
| rs13233368 | 0.88[ASN][1000 genomes] |
| rs1367776 | 0.99[ASN][1000 genomes] |
| rs1367777 | 0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes] |
| rs1367778 | 0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1431534 | 0.95[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.99[ASN][1000 genomes] |
| rs1431535 | 0.99[ASN][1000 genomes] |
| rs1431536 | 1.00[YRI][hapmap];0.84[AMR][1000 genomes] |
| rs2067698 | 0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes] |
| rs2116531 | 0.91[CHB][hapmap];0.95[CHD][hapmap];0.87[ASN][1000 genomes] |
| rs34628921 | 0.91[CHB][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes] |
| rs34886902 | 0.82[ASN][1000 genomes] |
| rs35182111 | 0.88[ASN][1000 genomes] |
| rs35469417 | 0.85[ASN][1000 genomes] |
| rs35690340 | 0.88[ASN][1000 genomes] |
| rs36198503 | 0.88[ASN][1000 genomes] |
| rs56352403 | 0.86[ASN][1000 genomes] |
| rs58641244 | 0.88[ASN][1000 genomes] |
| rs73068025 | 0.89[ASN][1000 genomes] |
| rs73068026 | 0.89[ASN][1000 genomes] |
| rs73068027 | 0.96[ASN][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 | nsv949033 | chr7:14086106-14860323 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv915603 | chr7:14443884-14624268 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | esv1848567 | chr7:14464118-14579801 | Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2043221 | ETV1 | cis | cerebellum | SCAN |
| rs2043221 | TMEM106B | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:14465400-14470800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
