Variant report
| Variant | rs61921150 |
|---|---|
| Chromosome Location | chr12:30700047-30700048 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:30698138..30700948-chr12:30704546..30706806,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs12581495 | 0.86[EUR][1000 genomes] |
| rs4930931 | 0.86[EUR][1000 genomes] |
| rs4930932 | 0.86[EUR][1000 genomes] |
| rs58828540 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs61921070 | 0.82[EUR][1000 genomes] |
| rs61921140 | 0.86[EUR][1000 genomes] |
| rs61921141 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs61921142 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs61921149 | 0.91[EUR][1000 genomes] |
| rs73287331 | 0.86[EUR][1000 genomes] |
| rs9668330 | 0.86[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 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 | 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 | nsv469192 | chr12:30678625-30707035 | Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 3 | nsv558029 | chr12:30678625-30707035 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 4 | nsv976029 | chr12:30687283-30702050 | Enhancers Weak transcription ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs61921150 | VPS54 | trans | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30699200-30700800 | Enhancers | Esophagus | oesophagus |
