Variant report
| Variant | rs1550730 |
|---|---|
| Chromosome Location | chr8:65006259-65006260 |
| allele | G/T |
| 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] |
|---|---|
| rs12542334 | 0.85[AFR][1000 genomes] |
| rs12549559 | 0.97[ASN][1000 genomes] |
| rs13255222 | 0.97[ASN][1000 genomes] |
| rs13271553 | 0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs13273490 | 0.99[ASN][1000 genomes] |
| rs1444511 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1838424 | 0.99[ASN][1000 genomes] |
| rs2018264 | 0.99[ASN][1000 genomes] |
| rs2099982 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2356371 | 0.92[ASN][1000 genomes] |
| rs2883916 | 0.96[ASN][1000 genomes] |
| rs35152868 | 0.88[EUR][1000 genomes] |
| rs35496690 | 0.81[ASN][1000 genomes] |
| rs4027777 | 0.81[ASN][1000 genomes] |
| rs4147346 | 0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4475525 | 0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs6472131 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6985609 | 0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs6988220 | 0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7014553 | 0.99[ASN][1000 genomes] |
| rs7844737 | 0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs874777 | 0.99[ASN][1000 genomes] |
| rs920875 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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 | nsv948343 | chr8:64804219-65328394 | Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 7 gene(s) | inside rSNPs | diseases |
| 2 | nsv890969 | chr8:64807144-65047353 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 3 | nsv890970 | chr8:64975466-65125295 | ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 4 | nsv534001 | chr8:64992196-65798776 | Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 17 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:65003600-65006800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 2 | chr8:65006000-65024200 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
