Variant report
| Variant | rs4952093 |
|---|---|
| Chromosome Location | chr2:30313926-30313927 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:30313357..30314500-chr2:30934116..30934746,3 | K562 | blood: | |
| 2 | chr2:30313436..30314334-chr2:30338241..30339544,4 | MCF-7 | breast: | |
| 3 | chr2:30313424..30314171-chr6:12240408..12241097,2 | MCF-7 | breast: | |
| 4 | chr2:30312781..30315363-chr2:30384135..30387056,2 | K562 | blood: | |
| 5 | chr2:30312844..30314414-chr2:30338159..30339562,13 | MCF-7 | breast: | |
| 6 | chr2:30313353..30314464-chr2:30338280..30339527,8 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs12052275 | 0.89[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs1374724 | 0.82[EUR][1000 genomes] |
| rs1509579 | 0.94[EUR][1000 genomes] |
| rs17009154 | 0.94[EUR][1000 genomes] |
| rs17009178 | 0.94[EUR][1000 genomes] |
| rs17009181 | 0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs2361751 | 1.00[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs3768668 | 0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs3768669 | 0.94[EUR][1000 genomes] |
| rs3768670 | 0.94[EUR][1000 genomes] |
| rs3768671 | 0.82[EUR][1000 genomes] |
| rs4951982 | 0.88[EUR][1000 genomes] |
| rs4952094 | 1.00[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs57641749 | 0.88[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs6547994 | 0.94[EUR][1000 genomes] |
| rs6718385 | 0.94[EUR][1000 genomes] |
| rs7585724 | 0.94[EUR][1000 genomes] |
| rs7603389 | 0.88[EUR][1000 genomes] |
| rs7608690 | 1.00[EUR][1000 genomes];0.80[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 | nsv533886 | chr2:30130019-31068764 | ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 32 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:30313800-30314200 | Bivalent Enhancer | Primary T cells fromperipheralblood | blood |
