Variant report
| Variant | rs12167016 |
|---|---|
| Chromosome Location | chr22:32376970-32376971 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:7 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 22:32360288-32405313..22:32764253-32784733 | K562 | blood: | |
| 2 | 22:32360288-32405313..22:32868055-32872511 | K562 | blood: | |
| 3 | 22:32012966-32043914..22:32360288-32405313 | K562 | blood: | |
| 4 | 22:32360288-32405313..22:33452523-33459358 | H1-hESC | embryonic stem cell: | embryo |
| 5 | 22:32360288-32405313..22:32750950-32761732 | K562 | blood: | |
| 6 | 22:32360288-32405313..22:32860159-32865649 | K562 | blood: | |
| 7 | 22:32360288-32405313..22:32740683-32750950 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000271093 | Chromatin interaction |
| ENSG00000100225 | Chromatin interaction |
| ENSG00000184459 | Chromatin interaction |
| ENSG00000128276 | Chromatin interaction |
| ENSG00000185666 | Chromatin interaction |
| ENSG00000241878 | Chromatin interaction |
| ENSG00000243519 | Chromatin interaction |
| ENSG00000230736 | Chromatin interaction |
| ENSG00000232218 | Chromatin interaction |
| ENSG00000241954 | Chromatin interaction |
| ENSG00000205853 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs130256 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs130257 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs130264 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs13054053 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs36065572 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs4821026 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs6518758 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs738181 | 1.00[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs8135356 | 0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs933226 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs9606893 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9609396 | 1.00[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs9609409 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9619244 | 0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1055450 | chr22:32356150-32468832 | Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 30 gene(s) | inside rSNPs | diseases |
| 2 | nsv1055925 | chr22:32358540-32450200 | Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 29 gene(s) | inside rSNPs | diseases |
| 3 | nsv1063876 | chr22:32358540-32463271 | Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 29 gene(s) | inside rSNPs | diseases |
| 4 | nsv1061546 | chr22:32358991-32464350 | Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 27 gene(s) | inside rSNPs | diseases |
| 5 | nsv1059240 | chr22:32362689-32462511 | Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
| 6 | nsv544678 | chr22:32362689-32462511 | Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
| 7 | nsv1060529 | chr22:32370432-32525699 | Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 32 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr22:32367200-32379800 | Weak transcription | Fetal Heart | heart |
| 2 | chr22:32374200-32379800 | Weak transcription | Duodenum Mucosa | Duodenum |
| 3 | chr22:32376600-32377000 | Enhancers | Fetal Intestine Large | intestine |
| 4 | chr22:32376800-32379200 | Weak transcription | Fetal Intestine Small | intestine |
