Variant report
| Variant | rs12499264 |
|---|---|
| Chromosome Location | chr4:127804216-127804217 |
| allele | A/C |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:127801431..127804375-chr4:127805407..127807314,4 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:23)
| rs_ID | r2[population] |
|---|---|
| rs10006007 | 0.81[EUR][1000 genomes] |
| rs10011592 | 0.80[EUR][1000 genomes] |
| rs10018143 | 0.80[EUR][1000 genomes] |
| rs10029439 | 0.80[EUR][1000 genomes] |
| rs11729025 | 0.80[EUR][1000 genomes] |
| rs12331011 | 0.80[EUR][1000 genomes] |
| rs13114412 | 0.87[EUR][1000 genomes] |
| rs13152355 | 0.88[EUR][1000 genomes] |
| rs13152658 | 0.88[EUR][1000 genomes] |
| rs1393991 | 0.80[CEU][hapmap] |
| rs1503630 | 0.89[EUR][1000 genomes] |
| rs1910441 | 0.83[JPT][hapmap];0.80[ASN][1000 genomes] |
| rs1960359 | 0.89[EUR][1000 genomes] |
| rs1995902 | 0.80[EUR][1000 genomes] |
| rs2391096 | 0.80[ASN][1000 genomes] |
| rs28866815 | 0.88[EUR][1000 genomes] |
| rs28897108 | 0.88[EUR][1000 genomes] |
| rs62323482 | 0.87[EUR][1000 genomes] |
| rs62323485 | 0.80[EUR][1000 genomes] |
| rs62323486 | 0.80[EUR][1000 genomes] |
| rs6849694 | 0.88[EUR][1000 genomes] |
| rs7662706 | 1.00[CEU][hapmap];0.80[EUR][1000 genomes] |
| rs993364 | 0.90[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv879910 | chr4:127646765-127805466 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 2 | nsv879911 | chr4:127646765-127835677 | Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv428773 | chr4:127760014-127913973 | Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv830055 | chr4:127794875-127993821 | Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12499264 | PLK4 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:127794000-127812200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr4:127803200-127815600 | Weak transcription | K562 | blood |
