Variant report
| Variant | rs2193383 |
|---|---|
| Chromosome Location | chr12:22282786-22282787 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs10770889 | 1.00[AMR][1000 genomes] |
| rs2080555 | 1.00[AMR][1000 genomes] |
| rs2098439 | 1.00[AMR][1000 genomes] |
| rs2909074 | 1.00[AMR][1000 genomes] |
| rs2909081 | 1.00[AMR][1000 genomes] |
| rs2955493 | 1.00[AMR][1000 genomes] |
| rs4762731 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs4762883 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs4762884 | 1.00[AMR][1000 genomes] |
| rs4762885 | 1.00[AMR][1000 genomes] |
| rs6487283 | 1.00[AMR][1000 genomes] |
| rs6487284 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs7294698 | 1.00[AMR][1000 genomes] |
| rs7297003 | 1.00[AMR][1000 genomes] |
| rs7308269 | 1.00[AMR][1000 genomes] |
| rs7316435 | 1.00[AMR][1000 genomes] |
| rs7486136 | 1.00[AMR][1000 genomes] |
| rs759585 | 1.00[AMR][1000 genomes] |
| rs975238 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv2758298 | chr12:22140834-22339299 | Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 2 | esv2759883 | chr12:22140834-22736907 | Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:22281400-22282800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
