Variant report
| Variant | rs16932810 |
|---|---|
| Chromosome Location | chr8:67249014-67249015 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:67242738..67245405-chr8:67248378..67251128,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:30)
| rs_ID | r2[population] |
|---|---|
| rs10109505 | 0.83[EUR][1000 genomes] |
| rs1080634 | 0.83[EUR][1000 genomes] |
| rs12265 | 0.86[JPT][hapmap] |
| rs12543948 | 0.88[ASN][1000 genomes] |
| rs12546108 | 0.81[ASN][1000 genomes] |
| rs12675850 | 0.83[CHB][hapmap] |
| rs17319640 | 0.85[EUR][1000 genomes] |
| rs2555580 | 0.82[CHB][hapmap];0.91[JPT][hapmap] |
| rs28371959 | 0.89[EUR][1000 genomes] |
| rs28536124 | 0.93[EUR][1000 genomes] |
| rs3739336 | 0.83[CHB][hapmap];0.85[JPT][hapmap] |
| rs3824263 | 0.86[JPT][hapmap] |
| rs4324908 | 0.87[EUR][1000 genomes] |
| rs4737226 | 0.88[ASN][1000 genomes] |
| rs4737781 | 0.88[ASN][1000 genomes] |
| rs55804693 | 0.92[EUR][1000 genomes] |
| rs56336230 | 0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs6472266 | 0.82[EUR][1000 genomes] |
| rs6651308 | 0.86[JPT][hapmap] |
| rs6981785 | 0.92[EUR][1000 genomes] |
| rs7001956 | 0.84[EUR][1000 genomes] |
| rs7010677 | 0.91[EUR][1000 genomes] |
| rs7011259 | 0.91[EUR][1000 genomes] |
| rs73691523 | 0.93[EUR][1000 genomes] |
| rs7822867 | 0.95[EUR][1000 genomes] |
| rs7839868 | 0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs949987 | 0.91[EUR][1000 genomes] |
| rs949989 | 0.81[EUR][1000 genomes] |
| rs9643398 | 0.86[JPT][hapmap] |
| rs9643582 | 0.86[JPT][hapmap] |
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 | esv3446467 | chr8:66749863-67667068 | Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 73 gene(s) | inside rSNPs | diseases |
| 2 | esv3414665 | chr8:66936816-67381935 | Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs16932810 | ADHFE1 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs16932810 | ADHFE1 | cis | cerebellum | SCAN |
| rs16932810 | ADHFE1 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:67246400-67250000 | Enhancers | Primary B cells from peripheral blood | blood |
| 2 | chr8:67246600-67249800 | Enhancers | Primary B cells from cord blood | blood |
