Variant report
| Variant | rs2248588 |
|---|---|
| Chromosome Location | chr2:113898710-113898711 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000125637 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:32)
| rs_ID | r2[population] |
|---|---|
| rs1586815 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs1688078 | 0.89[AFR][1000 genomes] |
| rs2172189 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2248596 | 0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2248600 | 1.00[EUR][1000 genomes] |
| rs2248604 | 1.00[EUR][1000 genomes] |
| rs28928281 | 1.00[EUR][1000 genomes] |
| rs28928283 | 1.00[EUR][1000 genomes] |
| rs28928291 | 1.00[EUR][1000 genomes] |
| rs28928299 | 1.00[EUR][1000 genomes] |
| rs28928300 | 1.00[EUR][1000 genomes] |
| rs28928301 | 1.00[EUR][1000 genomes] |
| rs28928302 | 1.00[EUR][1000 genomes] |
| rs28928304 | 1.00[EUR][1000 genomes] |
| rs28928305 | 1.00[EUR][1000 genomes] |
| rs28928306 | 1.00[EUR][1000 genomes] |
| rs28929168 | 1.00[EUR][1000 genomes] |
| rs3099479 | 1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs315935 | 1.00[EUR][1000 genomes] |
| rs315937 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs315938 | 0.80[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs315940 | 1.00[EUR][1000 genomes] |
| rs315941 | 1.00[EUR][1000 genomes] |
| rs315944 | 1.00[EUR][1000 genomes] |
| rs315950 | 1.00[EUR][1000 genomes] |
| rs315955 | 1.00[EUR][1000 genomes] |
| rs4848315 | 1.00[EUR][1000 genomes] |
| rs6735388 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs6736323 | 0.88[AFR][1000 genomes];0.89[AMR][1000 genomes] |
| rs6761821 | 1.00[EUR][1000 genomes] |
| rs7573950 | 1.00[EUR][1000 genomes] |
| rs923692 | 0.89[AMR][1000 genomes];1.00[EUR][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 | nsv997348 | chr2:113688093-113986508 | Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
| 2 | nsv582711 | chr2:113895516-113984503 | Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:113895000-113902400 | Weak transcription | Primary mononuclear cells fromperipheralblood | Blood |
| 2 | chr2:113897000-113906200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
