Variant report
| Variant | rs2465230 |
|---|---|
| Chromosome Location | chr12:47324596-47324597 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000134294 | Chromatin interaction |
| ENSG00000258096 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs10785646 | 0.82[EUR][1000 genomes] |
| rs10881011 | 0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs10881013 | 0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs11183666 | 0.83[EUR][1000 genomes] |
| rs11183671 | 0.81[EUR][1000 genomes] |
| rs11183672 | 0.82[EUR][1000 genomes] |
| rs11609950 | 0.80[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs12423364 | 0.83[EUR][1000 genomes] |
| rs2465221 | 0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs2465222 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2465223 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2465227 | 0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2465228 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2465229 | 0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2465232 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2465597 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2465617 | 0.90[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs4586261 | 0.83[EUR][1000 genomes] |
| rs6582686 | 0.84[EUR][1000 genomes] |
| rs7138703 | 0.83[EUR][1000 genomes] |
| rs7295618 | 0.84[EUR][1000 genomes] |
| rs7966987 | 0.82[AMR][1000 genomes];0.86[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv1845143 | chr12:47051076-47431496 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2465230 | CCNT1 | cis | parietal | SCAN |
| rs2465230 | PFKM | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:47324200-47328000 | Weak transcription | Liver | Liver |
