Variant report
| Variant | rs56287051 |
|---|---|
| Chromosome Location | chr12:33079572-33079573 |
| allele | G/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 | chr12:32908063..32910245-chr12:33078669..33080621,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000139131 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs11052417 | 1.00[AMR][1000 genomes] |
| rs55671927 | 1.00[AMR][1000 genomes] |
| rs55825139 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs58598352 | 1.00[AMR][1000 genomes] |
| rs59120557 | 1.00[AMR][1000 genomes] |
| rs74072482 | 1.00[AMR][1000 genomes] |
| rs74072985 | 1.00[AMR][1000 genomes] |
| rs74072990 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs74074808 | 1.00[AMR][1000 genomes] |
| rs74074827 | 1.00[AMR][1000 genomes] |
| rs74074828 | 1.00[AMR][1000 genomes] |
| rs74074832 | 1.00[AMR][1000 genomes] |
| rs74075503 | 1.00[AMR][1000 genomes] |
| rs74075504 | 1.00[AMR][1000 genomes] |
| rs7964975 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 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 | nsv530421 | chr12:32825335-33465991 | Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
| 2 | nsv1054440 | chr12:32872999-33150460 | Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
| 3 | nsv1035900 | chr12:33010643-33079667 | Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 4 | nsv541458 | chr12:33010643-33079667 | Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 5 | nsv832367 | chr12:33063644-33298967 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:33079000-33079600 | Enhancers | NHEK | skin |
| 2 | chr12:33079200-33079800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
