Variant report
| Variant | rs2076046 |
|---|---|
| Chromosome Location | chr22:32820957-32820958 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr22:32819717..32822540-chr22:32869209..32872621,3 | K562 | blood: | |
| 2 | chr22:32813930..32815721-chr22:32818437..32821408,3 | K562 | blood: | |
| 3 | 22:32228866-32235273..22:32819468-32826336 | GM12878 | blood: | |
| 4 | 22:32264718-32278135..22:32819468-32826336 | GM12878 | blood: | |
| 5 | chr22:32818703..32822540-chr22:32869209..32873188,4 | K562 | blood: | |
| 6 | 22:32292186-32294405..22:32819468-32826336 | GM12878 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000252909 | Chromatin interaction |
| ENSG00000100150 | Chromatin interaction |
| ENSG00000100225 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:5)
| rs_ID | r2[population] |
|---|---|
| rs2076047 | 0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs2076048 | 0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs2076049 | 0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs5754081 | 0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs5998486 | 0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][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 | 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 |
| 2 | 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 |
| 3 | 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 |
| 4 | nsv1055701 | chr22:32806595-32845403 | Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive region | 21 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
