Variant report
| Variant | rs4675457 |
|---|---|
| Chromosome Location | chr2:205322618-205322619 |
| allele | G/T |
| 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 |
| No data |
rSNPs within LD-proxies of this variant (count:26)
| rs_ID | r2[population] |
|---|---|
| rs10084416 | 0.80[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs10490267 | 1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes] |
| rs10932063 | 0.81[AMR][1000 genomes];0.80[ASN][1000 genomes] |
| rs1156249 | 0.93[ASN][1000 genomes] |
| rs11690070 | 0.80[ASN][1000 genomes] |
| rs12472876 | 0.84[AMR][1000 genomes];0.86[ASN][1000 genomes] |
| rs12616166 | 0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs12990859 | 0.81[ASN][1000 genomes] |
| rs13010221 | 0.83[ASN][1000 genomes] |
| rs13024043 | 0.93[ASN][1000 genomes] |
| rs1374708 | 0.91[ASN][1000 genomes] |
| rs1374709 | 0.80[ASN][1000 genomes] |
| rs1447488 | 0.96[ASN][1000 genomes] |
| rs1447490 | 0.86[ASN][1000 genomes] |
| rs1447493 | 0.86[ASN][1000 genomes] |
| rs1447495 | 0.85[ASN][1000 genomes] |
| rs1550909 | 1.00[JPT][hapmap] |
| rs17637637 | 0.86[ASN][1000 genomes] |
| rs34157021 | 0.80[ASN][1000 genomes] |
| rs34368384 | 0.85[ASN][1000 genomes] |
| rs35207649 | 0.81[ASN][1000 genomes] |
| rs71427747 | 0.85[ASN][1000 genomes] |
| rs7602656 | 0.85[ASN][1000 genomes] |
| rs921163 | 1.00[JPT][hapmap] |
| rs959032 | 0.86[ASN][1000 genomes] |
| rs959033 | 0.86[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv964353 | chr2:205303005-205473935 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | esv34706 | chr2:205309211-205348724 | Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4675457 | CYP20A1 | cis | parietal | SCAN |
| rs4675457 | CFLAR | cis | cerebellum | SCAN |
| rs4675457 | ICA1L | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:205320000-205323200 | Weak transcription | Lung | lung |
