Variant report
| Variant | rs12579182 |
|---|---|
| Chromosome Location | chr12:30920080-30920081 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
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(count:3 , 50 per page) page:
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| No data |
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rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs10743729 | 0.81[CEU][hapmap] |
| rs10843816 | 0.81[CEU][hapmap] |
| rs10843817 | 0.81[CEU][hapmap];0.82[JPT][hapmap] |
| rs11051061 | 0.81[EUR][1000 genomes] |
| rs11051063 | 0.81[EUR][1000 genomes] |
| rs12146709 | 0.81[CEU][hapmap] |
| rs12578147 | 0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs12582455 | 0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs12809335 | 0.81[CEU][hapmap] |
| rs12816743 | 0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs12817992 | 0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs12820114 | 0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12823802 | 0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs12824388 | 0.88[AFR][1000 genomes];0.80[EUR][1000 genomes] |
| rs12826337 | 0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs12828190 | 0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs12830910 | 0.83[CEU][hapmap] |
| rs1438908 | 0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2114899 | 0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs34689120 | 0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs71440920 | 0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3343291 | chr12:30455597-30992837 | Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
| 2 | nsv832361 | chr12:30794030-30997241 | Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 41 gene(s) | inside rSNPs | diseases |
| 3 | nsv949148 | chr12:30800040-31131712 | Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 45 gene(s) | inside rSNPs | diseases |
| 4 | esv3371244 | chr12:30916285-30920583 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12579182 | IPO8 | cis | Artery Tibial | GTEx |
| rs12579182 | IPO8 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30918200-30924200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
