Variant report
| Variant | rs286479 |
|---|---|
| Chromosome Location | chr4:79947170-79947171 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:79944609..79947579-chr4:79951684..79954668,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs17003530 | 0.95[EUR][1000 genomes] |
| rs17003575 | 1.00[AFR][1000 genomes] |
| rs17003576 | 1.00[AFR][1000 genomes] |
| rs17003579 | 1.00[AFR][1000 genomes] |
| rs286480 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs56112016 | 1.00[AFR][1000 genomes] |
| rs56118735 | 0.84[AFR][1000 genomes] |
| rs6853652 | 0.81[AFR][1000 genomes] |
| rs6853917 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7654451 | 1.00[AFR][1000 genomes] |
| rs9684933 | 0.81[AFR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv829979 | chr4:79819168-80019159 | Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv1000907 | chr4:79838948-80224764 | Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv879505 | chr4:79887043-80293046 | Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 4 | esv3448470 | chr4:79898340-80026510 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv432614 | chr4:79910989-79993822 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 6 | nsv1010833 | chr4:79945299-79964080 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 7 | nsv523154 | chr4:79947170-79949076 | Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs286479 | PAQR3 | cis | cerebellum | SCAN |
| rs286479 | NAAA | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:79946200-79947200 | Enhancers | Stomach Mucosa | stomach |
| 2 | chr4:79947000-79947600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
