Variant report
| Variant | rs721318 |
|---|---|
| Chromosome Location | chr20:15464529-15464530 |
| allele | C/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:25)
| rs_ID | r2[population] |
|---|---|
| rs1233759 | 0.89[CEU][hapmap] |
| rs1233760 | 0.89[CEU][hapmap] |
| rs1233761 | 0.94[CEU][hapmap] |
| rs1233762 | 0.89[CEU][hapmap] |
| rs1233763 | 0.89[CEU][hapmap] |
| rs1233764 | 0.94[CEU][hapmap] |
| rs1233766 | 0.94[CEU][hapmap] |
| rs1233767 | 0.94[CEU][hapmap] |
| rs1233769 | 0.94[CEU][hapmap] |
| rs1233771 | 0.94[CEU][hapmap] |
| rs1558739 | 0.89[CEU][hapmap] |
| rs2145017 | 0.94[CEU][hapmap] |
| rs2180527 | 0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2208136 | 0.94[CEU][hapmap];0.86[AMR][1000 genomes] |
| rs2224301 | 0.94[CEU][hapmap] |
| rs2876408 | 0.84[AMR][1000 genomes] |
| rs4814382 | 0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4814383 | 0.94[CEU][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes] |
| rs4814384 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4814389 | 0.94[CEU][hapmap];0.82[TSI][hapmap] |
| rs6034202 | 0.94[CEU][hapmap];0.82[AMR][1000 genomes] |
| rs6034203 | 0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6034204 | 0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6043331 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap] |
| rs6135422 | 0.94[CEU][hapmap] |
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 | nsv1062252 | chr20:14964258-15547739 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv544206 | chr20:14964258-15547739 | Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv869328 | chr20:15325423-16213898 | Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 4 | nsv833927 | chr20:15362602-15520185 | Enhancers Weak transcription Flanking Active TSS Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs721318 | LOC100130264 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:15463200-15466200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr20:15463200-15467400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
