Variant report
| Variant | rs12021751 |
|---|---|
| Chromosome Location | chr1:75434399-75434400 |
| 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:24)
| rs_ID | r2[population] |
|---|---|
| rs1007512 | 0.88[EUR][1000 genomes] |
| rs10493552 | 0.89[CEU][hapmap] |
| rs11161851 | 0.80[ASN][1000 genomes] |
| rs11162201 | 0.95[EUR][1000 genomes] |
| rs11162250 | 0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11162302 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11162315 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11162359 | 0.90[ASN][1000 genomes] |
| rs11162360 | 0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11162513 | 0.88[EUR][1000 genomes] |
| rs12041465 | 0.88[MKK][hapmap] |
| rs12120668 | 0.81[ASN][1000 genomes] |
| rs1335095 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1413991 | 0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1526505 | 0.88[MKK][hapmap] |
| rs1526507 | 0.88[EUR][1000 genomes] |
| rs1852347 | 0.88[EUR][1000 genomes] |
| rs277355 | 0.81[ASN][1000 genomes] |
| rs277366 | 0.80[ASN][1000 genomes] |
| rs277367 | 0.80[ASN][1000 genomes] |
| rs4559444 | 0.95[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs4949725 | 0.88[EUR][1000 genomes] |
| rs6685645 | 0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs9787288 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1011745 | chr1:74730942-75477618 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
| 2 | nsv535003 | chr1:74730942-75477618 | Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
| 3 | nsv871743 | chr1:75235082-75714554 | Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12021751 | USP33 | cis | cerebellum | SCAN |
| rs12021751 | C1orf173 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:75433200-75436000 | Enhancers | Liver | Liver |
