Variant report
| Variant | rs6430443 |
|---|---|
| Chromosome Location | chr2:134442532-134442533 |
| 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:20)
| rs_ID | r2[population] |
|---|---|
| rs10175700 | 0.82[ASN][1000 genomes] |
| rs10439201 | 0.89[ASN][1000 genomes] |
| rs12474261 | 0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[ASN][1000 genomes] |
| rs1901436 | 0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs1901437 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs1901439 | 0.83[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs1901440 | 0.90[ASN][1000 genomes] |
| rs1901444 | 0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1993135 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs2321203 | 0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs3936142 | 0.81[ASN][1000 genomes] |
| rs4467329 | 0.81[ASN][1000 genomes] |
| rs4547575 | 0.81[ASN][1000 genomes] |
| rs4553871 | 0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[ASN][1000 genomes] |
| rs4558640 | 0.81[ASN][1000 genomes] |
| rs4560170 | 0.81[ASN][1000 genomes] |
| rs6715016 | 0.93[ASN][1000 genomes] |
| rs7558993 | 0.94[AMR][1000 genomes];0.83[ASN][1000 genomes] |
| rs7595524 | 0.94[AMR][1000 genomes];0.83[ASN][1000 genomes] |
| rs9283451 | 0.81[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 | nsv1003624 | chr2:134126928-134583203 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 2 | nsv1006101 | chr2:134263288-134973917 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 14 gene(s) | inside rSNPs | diseases |
| 3 | nsv1013713 | chr2:134322236-134644574 | Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 4 | nsv535931 | chr2:134322236-134644574 | Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs6430443 | LOC401010 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:134442200-134443600 | Enhancers | Fetal Muscle Leg | muscle |
