Variant report
| Variant | rs4371993 |
|---|---|
| Chromosome Location | chr8:60146239-60146240 |
| 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:23)
| rs_ID | r2[population] |
|---|---|
| rs10504289 | 0.88[ASN][1000 genomes] |
| rs10504290 | 0.88[ASN][1000 genomes] |
| rs12155634 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs16924770 | 0.99[ASN][1000 genomes] |
| rs4257993 | 0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs4412358 | 0.99[ASN][1000 genomes] |
| rs4475464 | 0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs4478560 | 0.81[ASN][1000 genomes] |
| rs4515537 | 0.88[ASN][1000 genomes] |
| rs4562302 | 0.99[ASN][1000 genomes] |
| rs4737538 | 0.81[ASN][1000 genomes] |
| rs4738761 | 0.84[ASN][1000 genomes] |
| rs4738762 | 0.83[ASN][1000 genomes] |
| rs57150798 | 0.99[ASN][1000 genomes] |
| rs59604889 | 0.99[ASN][1000 genomes] |
| rs60762860 | 1.00[ASN][1000 genomes] |
| rs68188343 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73248443 | 0.99[ASN][1000 genomes] |
| rs73248445 | 0.98[ASN][1000 genomes] |
| rs73248446 | 0.98[ASN][1000 genomes] |
| rs73252601 | 0.97[ASN][1000 genomes] |
| rs73254103 | 0.97[ASN][1000 genomes] |
| rs9643508 | 0.83[ASN][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 | nsv831327 | chr8:60008412-60159152 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 2 | nsv831328 | chr8:60062971-60288276 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 3 | nsv1029441 | chr8:60099776-60539141 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 4 | nsv539629 | chr8:60099776-60539141 | ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 5 | esv3323551 | chr8:60119947-60147653 | Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 6 | nsv511399 | chr8:60132194-60146239 | Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 7 | esv3448976 | chr8:60144023-60146371 | Enhancers | n/a | n/a | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4371993 | CHD7 | cis | cerebellum | SCAN |
| rs4371993 | TOX | cis | Heart Left Ventricle | GTEx |
| rs4371993 | RP11-25K19.1 | cis | Heart Left Ventricle | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:60146200-60146600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
