Variant report
| Variant | rs1506393 |
|---|---|
| Chromosome Location | chr12:30632592-30632593 |
| allele | C/T |
| 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 | chr12:30630764..30632719-chr12:30642693..30644832,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:37)
| rs_ID | r2[population] |
|---|---|
| rs10771710 | 0.81[AMR][1000 genomes] |
| rs10771711 | 0.82[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10771712 | 0.81[AMR][1000 genomes] |
| rs10771717 | 0.81[AMR][1000 genomes] |
| rs10843753 | 0.81[AMR][1000 genomes] |
| rs11050893 | 0.81[AMR][1000 genomes] |
| rs1354713 | 0.82[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1500109 | 0.81[AMR][1000 genomes] |
| rs1500110 | 0.81[AMR][1000 genomes] |
| rs1506368 | 0.81[AMR][1000 genomes] |
| rs1506386 | 0.85[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1506389 | 1.00[ASN][1000 genomes] |
| rs1506390 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1553231 | 1.00[ASN][1000 genomes] |
| rs1580964 | 0.81[AMR][1000 genomes] |
| rs1588006 | 0.82[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1846649 | 0.81[AMR][1000 genomes] |
| rs1848021 | 0.85[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs2062999 | 0.81[AMR][1000 genomes] |
| rs2133688 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs354098 | 1.00[ASN][1000 genomes] |
| rs4564414 | 1.00[ASN][1000 genomes] |
| rs4931329 | 0.81[AMR][1000 genomes] |
| rs4931332 | 0.81[AMR][1000 genomes] |
| rs4931334 | 0.81[AMR][1000 genomes] |
| rs4931335 | 0.81[AMR][1000 genomes] |
| rs4931336 | 0.85[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6487916 | 1.00[ASN][1000 genomes] |
| rs6487917 | 1.00[ASN][1000 genomes] |
| rs7301701 | 1.00[ASN][1000 genomes] |
| rs7302894 | 1.00[ASN][1000 genomes] |
| rs7311808 | 1.00[ASN][1000 genomes] |
| rs7952779 | 0.81[AMR][1000 genomes] |
| rs7957688 | 0.82[AMR][1000 genomes] |
| rs7958461 | 0.82[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7973080 | 0.81[AMR][1000 genomes] |
| rs7978135 | 0.91[AMR][1000 genomes];1.00[EUR][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 | 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 | nsv1050233 | chr12:30590071-30670919 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1506393 | RAB37 | trans | lymphoblastoid | seeQTL |
| rs1506393 | IPO8 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30624800-30635400 | Weak transcription | Liver | Liver |
