Variant report
| Variant | rs6917204 |
|---|---|
| Chromosome Location | chr6:145284716-145284717 |
| allele | C/T |
| 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 | chr6:145281410..145283107-chr6:145284584..145286778,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs1111810 | 0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs11752326 | 0.84[ASN][1000 genomes] |
| rs13216871 | 0.86[CHB][hapmap];0.85[GIH][hapmap] |
| rs1832481 | 0.85[ASN][1000 genomes] |
| rs4896766 | 0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs4896767 | 0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs6570667 | 0.89[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs6932709 | 0.84[ASN][1000 genomes] |
| rs6937673 | 0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs7753021 | 0.82[ASN][1000 genomes] |
| rs9285506 | 0.96[ASN][1000 genomes] |
| rs9322008 | 0.96[ASN][1000 genomes] |
| rs9322009 | 0.93[ASN][1000 genomes] |
| rs9373436 | 0.85[ASN][1000 genomes] |
| rs9376879 | 0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs9386093 | 0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs9390264 | 0.85[ASN][1000 genomes] |
| rs9390266 | 0.96[ASN][1000 genomes] |
| rs9403640 | 0.85[ASN][1000 genomes] |
| rs9403644 | 0.91[ASN][1000 genomes] |
| rs9497163 | 0.92[EUR][1000 genomes];0.91[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 | nsv1016747 | chr6:144917411-145599874 | Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
| 2 | esv1850377 | chr6:145199259-145319640 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer | Chromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv886742 | chr6:145269757-145376903 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh | Chromatin interactive region | 2 gene(s) | inside rSNPs | n/a |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs6917204 | PLAGL1 | cis | cerebellum | SCAN |
| rs6917204 | VTA1 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:145284200-145284800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr6:145284600-145285000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
