Variant report
Variant | rs2193385 |
---|---|
Chromosome Location | chr12:22282120-22282121 |
allele | A/G |
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 |
rs_ID | r2[population] |
---|---|
rs10492281 | 0.84[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs10770890 | 0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs10770891 | 0.83[ASN][1000 genomes] |
rs12303121 | 0.82[ASN][1000 genomes] |
rs12306254 | 0.82[ASN][1000 genomes] |
rs12829732 | 0.84[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs12831501 | 0.84[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs1861710 | 0.83[ASN][1000 genomes] |
rs2080551 | 0.81[ASN][1000 genomes] |
rs2080554 | 0.83[ASN][1000 genomes] |
rs2193382 | 0.92[AFR][1000 genomes];0.91[ASN][1000 genomes] |
rs2193384 | 0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes] |
rs2193386 | 0.86[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs2193387 | 0.86[AMR][1000 genomes];0.92[ASN][1000 genomes] |
rs2970797 | 0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes] |
rs34299716 | 0.84[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs34533494 | 0.84[AMR][1000 genomes];0.92[ASN][1000 genomes] |
rs35253752 | 0.93[ASN][1000 genomes] |
rs35683388 | 0.93[ASN][1000 genomes] |
rs3937473 | 0.86[AMR][1000 genomes];0.95[ASN][1000 genomes] |
rs6487285 | 0.83[ASN][1000 genomes] |
rs7138641 | 0.95[ASN][1000 genomes] |
rs71448629 | 0.93[ASN][1000 genomes] |
rs7296982 | 0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs7300750 | 0.94[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs7968893 | 0.95[AFR][1000 genomes];0.96[ASN][1000 genomes] |

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 |