Variant report
| Variant | rs12166739 |
|---|---|
| Chromosome Location | chr22:32771066-32771067 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 22:31829733-31836635..22:32764253-32784733 | K562 | blood: | |
| 2 | 22:31936958-31958600..22:32764253-32784733 | K562 | blood: | |
| 3 | 22:32529813-32538538..22:32764253-32784733 | H1-hESC | embryonic stem cell: | embryo |
| 4 | 22:32513817-32522138..22:32764253-32784733 | H1-hESC | embryonic stem cell: | embryo |
| 5 | 22:32360288-32405313..22:32764253-32784733 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000240647 | Chromatin interaction |
| ENSG00000230866 | Chromatin interaction |
| ENSG00000232707 | Chromatin interaction |
| ENSG00000184708 | Chromatin interaction |
| ENSG00000234479 | Chromatin interaction |
| ENSG00000214093 | Chromatin interaction |
| ENSG00000239674 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:12)
| rs_ID | r2[population] |
|---|---|
| rs11089558 | 0.83[AMR][1000 genomes] |
| rs12168398 | 0.80[AMR][1000 genomes] |
| rs16990327 | 1.00[YRI][hapmap];0.80[AMR][1000 genomes] |
| rs16990372 | 0.82[YRI][hapmap] |
| rs28524944 | 0.80[AMR][1000 genomes] |
| rs5994567 | 0.90[AMR][1000 genomes] |
| rs5998480 | 0.90[AMR][1000 genomes] |
| rs9619258 | 1.00[YRI][hapmap];0.80[AMR][1000 genomes] |
| rs9621428 | 0.80[AMR][1000 genomes] |
| rs9621437 | 0.87[YRI][hapmap];0.91[AMR][1000 genomes] |
| rs9621438 | 0.90[AMR][1000 genomes] |
| rs9621440 | 0.90[AMR][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 | esv2422247 | chr22:32486448-32788258 | Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 44 gene(s) | inside rSNPs | diseases |
| 2 | nsv459874 | chr22:32574274-32866934 | Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
| 3 | nsv588895 | chr22:32574274-32866934 | Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
| 4 | nsv1064737 | chr22:32603912-32829725 | Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 38 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr22:32755800-32781600 | Weak transcription | Ovary | ovary |
| 2 | chr22:32762800-32788200 | Weak transcription | Psoas Muscle | Psoas |
