Variant report
| Variant | rs1375014 |
|---|---|
| Chromosome Location | chr11:121816920-121816921 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:121815543..121818136-chr11:121836975..121839770,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs11218472 | 0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs1219431 | 0.88[AFR][1000 genomes] |
| rs1219432 | 0.85[AFR][1000 genomes] |
| rs1219433 | 0.88[AFR][1000 genomes] |
| rs1219454 | 0.81[AFR][1000 genomes] |
| rs1219460 | 0.84[AFR][1000 genomes] |
| rs1375013 | 0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs1448132 | 0.88[AFR][1000 genomes] |
| rs1448133 | 0.88[AFR][1000 genomes] |
| rs1789750 | 0.88[AFR][1000 genomes] |
| rs4016823 | 0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs61905478 | 0.90[ASN][1000 genomes] |
| rs7934592 | 0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs7937893 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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 | nsv556478 | chr11:121816920-121840829 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
mRNA abundance (count:5)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1375014 | KIF4B | trans | cerebellum | SCAN |
| rs1375014 | SORL1 | cis | cerebellum | SCAN |
| rs1375014 | UPK2 | cis | cerebellum | SCAN |
| rs1375014 | POU2F3 | cis | parietal | SCAN |
| rs1375014 | BSX | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:121812000-121817200 | Weak transcription | Left Ventricle | heart |
