Variant report
| Variant | rs7310091 |
|---|---|
| Chromosome Location | chr12:47260012-47260013 |
| 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 | chr12:47259078..47261834-chr12:47262406..47264893,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs12810051 | 0.83[AFR][1000 genomes];0.88[EUR][1000 genomes] |
| rs12813857 | 0.83[AFR][1000 genomes];0.88[EUR][1000 genomes] |
| rs12832186 | 0.83[AFR][1000 genomes];0.86[EUR][1000 genomes] |
| rs2249315 | 0.88[EUR][1000 genomes] |
| rs2250202 | 0.91[EUR][1000 genomes] |
| rs2465203 | 0.88[EUR][1000 genomes] |
| rs2711696 | 0.88[EUR][1000 genomes] |
| rs2715780 | 0.88[EUR][1000 genomes] |
| rs34666797 | 0.83[AFR][1000 genomes];0.90[EUR][1000 genomes] |
| rs34881657 | 0.83[AFR][1000 genomes];0.90[EUR][1000 genomes] |
| rs35024790 | 0.83[AFR][1000 genomes];0.88[EUR][1000 genomes] |
| rs56229259 | 0.83[EUR][1000 genomes] |
| rs56403430 | 0.83[EUR][1000 genomes] |
| rs59977082 | 0.83[EUR][1000 genomes] |
| rs7132156 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs74082941 | 0.83[EUR][1000 genomes] |
| rs74082948 | 0.83[EUR][1000 genomes] |
| rs74082953 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs74082963 | 0.88[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs74082966 | 0.88[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs7980196 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1049525 | chr12:46721742-47264172 | Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 152 gene(s) | inside rSNPs | diseases |
| 2 | nsv541486 | chr12:46721742-47264172 | Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 152 gene(s) | inside rSNPs | diseases |
| 3 | esv1845143 | chr12:47051076-47431496 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 4 | nsv899054 | chr12:47224325-47280079 | Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:47258200-47260400 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 2 | chr12:47259800-47260200 | Strong transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
