Variant report
| Variant | rs12166447 |
|---|---|
| Chromosome Location | chr22:30911432-30911433 |
| 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 | chr22:30909996..30912049-chr22:30918032..30920437,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs10428025 | 1.00[ASN][1000 genomes] |
| rs12170589 | 0.81[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12170920 | 1.00[ASN][1000 genomes] |
| rs4149493 | 1.00[EUR][1000 genomes] |
| rs5749109 | 0.86[ASN][1000 genomes] |
| rs5749115 | 1.00[ASN][1000 genomes] |
| rs5749117 | 1.00[ASN][1000 genomes] |
| rs5749124 | 0.81[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs5753168 | 0.90[ASN][1000 genomes] |
| rs5753178 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs5753180 | 1.00[ASN][1000 genomes] |
| rs5753181 | 1.00[ASN][1000 genomes] |
| rs5753183 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs5753194 | 0.81[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs62226963 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6518696 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs6518697 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7289983 | 1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs8135119 | 0.96[ASN][1000 genomes] |
| rs8138701 | 0.94[ASN][1000 genomes] |
| rs8138980 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs886618 | 0.83[ASN][1000 genomes] |
| rs9619116 | 0.90[ASN][1000 genomes] |
| rs9621003 | 0.86[ASN][1000 genomes] |
| rs9621016 | 0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv829171 | chr22:30598030-31043578 | Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 66 gene(s) | inside rSNPs | diseases |
| 2 | nsv915818 | chr22:30708245-31346302 | Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 82 gene(s) | inside rSNPs | diseases |
| 3 | esv3413089 | chr22:30888110-30921604 | ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr22:30910000-30912400 | Enhancers | HepG2 | liver |
| 2 | chr22:30910200-30922000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
