Variant report
| Variant | rs2243478 |
|---|---|
| Chromosome Location | chr8:113179428-113179429 |
| allele | A/C |
| 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:29)
| rs_ID | r2[population] |
|---|---|
| rs10105433 | 0.81[CEU][hapmap] |
| rs11786941 | 0.81[CEU][hapmap] |
| rs12114136 | 0.82[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs1420849 | 0.92[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs1420850 | 0.81[CEU][hapmap] |
| rs1420851 | 0.81[CEU][hapmap] |
| rs1420855 | 0.90[ASN][1000 genomes] |
| rs1420856 | 0.88[ASN][1000 genomes] |
| rs1592624 | 0.81[CEU][hapmap] |
| rs1592625 | 0.81[CEU][hapmap] |
| rs1833321 | 0.81[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs1895014 | 0.84[CEU][hapmap] |
| rs1895015 | 0.81[CEU][hapmap] |
| rs1895016 | 0.81[CEU][hapmap] |
| rs2052343 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs2052345 | 0.81[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs2353273 | 0.88[EUR][1000 genomes] |
| rs2883277 | 0.81[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs4412394 | 0.81[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs4876278 | 0.81[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs4876279 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs4876450 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs4876460 | 0.81[CEU][hapmap] |
| rs6983302 | 0.85[CEU][hapmap] |
| rs7003531 | 0.81[CEU][hapmap] |
| rs7827158 | 0.83[JPT][hapmap] |
| rs7835695 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs870523 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs888255 | 0.98[AFR][1000 genomes];1.00[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 | nsv533857 | chr8:112819659-113801258 | Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 9 gene(s) | inside rSNPs | diseases |
| 2 | nsv891321 | chr8:112978128-113229425 | Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv891322 | chr8:112978128-113267916 | Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv1022457 | chr8:113071774-113811177 | Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 6 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2243478 | PCDH7 | cis | Brain Pons | GTEx |
| rs2243478 | KCNV1 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:113178400-113179600 | Enhancers | Fetal Brain Male | brain |
