Variant report
| Variant | rs28744383 |
|---|---|
| Chromosome Location | chr2:56040908-56040909 |
| 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:22)
| rs_ID | r2[population] |
|---|---|
| rs10173401 | 0.81[AMR][1000 genomes] |
| rs10173540 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs10180043 | 0.92[ASN][1000 genomes] |
| rs10189460 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs10196888 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs12104451 | 0.98[ASN][1000 genomes] |
| rs13394642 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs13404859 | 0.81[AMR][1000 genomes] |
| rs13409792 | 0.94[ASN][1000 genomes] |
| rs13413609 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs13426650 | 0.88[ASN][1000 genomes] |
| rs2099188 | 0.92[ASN][1000 genomes] |
| rs4519567 | 0.92[ASN][1000 genomes] |
| rs58754091 | 0.98[ASN][1000 genomes] |
| rs6723695 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs72807729 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs72807735 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs72807739 | 0.88[ASN][1000 genomes] |
| rs72807740 | 0.88[ASN][1000 genomes] |
| rs7577580 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs7604558 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs875997 | 0.98[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv531374 | chr2:55653723-56299784 | Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:56038800-56047200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
