Variant report
| Variant | rs7696864 |
|---|---|
| Chromosome Location | chr4:84791189-84791190 |
| 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:25)
| rs_ID | r2[population] |
|---|---|
| rs1032249 | 0.91[ASN][1000 genomes] |
| rs1032250 | 0.91[ASN][1000 genomes] |
| rs1032252 | 0.84[ASN][1000 genomes] |
| rs1032253 | 0.84[ASN][1000 genomes] |
| rs1032254 | 0.91[ASN][1000 genomes] |
| rs1354655 | 0.91[ASN][1000 genomes] |
| rs1488648 | 0.91[ASN][1000 genomes] |
| rs17007540 | 0.81[ASN][1000 genomes] |
| rs17007542 | 0.88[ASN][1000 genomes] |
| rs17007550 | 0.82[ASN][1000 genomes] |
| rs17007600 | 0.91[ASN][1000 genomes] |
| rs1906577 | 0.83[ASN][1000 genomes] |
| rs1906579 | 0.91[ASN][1000 genomes] |
| rs1994511 | 0.91[ASN][1000 genomes] |
| rs2017394 | 0.91[ASN][1000 genomes] |
| rs4373154 | 0.91[ASN][1000 genomes] |
| rs55856140 | 0.88[ASN][1000 genomes] |
| rs6535501 | 0.83[ASN][1000 genomes] |
| rs6828229 | 0.91[ASN][1000 genomes] |
| rs6845816 | 0.91[ASN][1000 genomes] |
| rs6850957 | 0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6850984 | 0.91[ASN][1000 genomes] |
| rs721461 | 0.83[ASN][1000 genomes] |
| rs721462 | 0.83[ASN][1000 genomes] |
| rs72937261 | 0.90[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 | nsv879512 | chr4:84374692-85090749 | Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 29 gene(s) | inside rSNPs | diseases |
| 2 | nsv1010009 | chr4:84469896-84882528 | Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 3 | nsv879513 | chr4:84612373-84905452 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7696864 | PTAFR | trans | lymphoblastoid | seeQTL |
| rs7696864 | KLHL8 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:84791000-84791800 | Enhancers | Brain Substantia Nigra | brain |
| 2 | chr4:84791000-84792400 | Enhancers | Brain Hippocampus Middle | brain |
