Variant report
| Variant | rs476616 |
|---|---|
| Chromosome Location | chr19:39533469-39533470 |
| allele | C/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:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000267992 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:30)
| rs_ID | r2[population] |
|---|---|
| rs10403886 | 0.86[EUR][1000 genomes] |
| rs1268251 | 0.84[ASN][1000 genomes] |
| rs2873836 | 0.81[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs472104 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs473729 | 0.84[ASN][1000 genomes] |
| rs473878 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs479001 | 0.84[ASN][1000 genomes] |
| rs4802004 | 0.85[ASN][1000 genomes] |
| rs4802012 | 0.90[ASN][1000 genomes] |
| rs4803194 | 0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs485226 | 0.83[ASN][1000 genomes] |
| rs497378 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs533573 | 0.84[ASN][1000 genomes] |
| rs536244 | 0.84[ASN][1000 genomes] |
| rs569337 | 0.97[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs580494 | 0.83[ASN][1000 genomes] |
| rs586059 | 0.83[ASN][1000 genomes] |
| rs599752 | 0.81[EUR][1000 genomes] |
| rs600128 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs601966 | 0.92[ASN][1000 genomes] |
| rs603268 | 0.92[ASN][1000 genomes] |
| rs617085 | 0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs631879 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs631952 | 0.84[ASN][1000 genomes] |
| rs646580 | 0.83[ASN][1000 genomes] |
| rs650450 | 0.92[ASN][1000 genomes] |
| rs681921 | 0.98[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs7254745 | 0.86[ASN][1000 genomes] |
| rs7258182 | 0.81[ASN][1000 genomes] |
| rs8109914 | 0.81[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv963126 | chr19:39521120-39552490 | Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 2 | esv2760517 | chr19:39530012-39544234 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs476616 | FBXO27 | cis | Skin Sun Exposed Lower leg | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:39523400-39535400 | Weak transcription | Right Atrium | heart |
| 2 | chr19:39530800-39543000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
