Variant report
| Variant | rs990208 |
|---|---|
| Chromosome Location | chr2:213472634-213472635 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:213470074..213472529-chr2:213472625..213475028,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs10497980 | 0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs16848890 | 0.82[ASN][1000 genomes] |
| rs16848937 | 0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs16848957 | 0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs16848991 | 0.83[ASN][1000 genomes] |
| rs16849010 | 0.83[ASN][1000 genomes] |
| rs1878566 | 0.88[CHB][hapmap] |
| rs2220025 | 0.83[ASN][1000 genomes] |
| rs2371617 | 0.85[AMR][1000 genomes] |
| rs4672649 | 0.96[ASN][1000 genomes] |
| rs4673668 | 0.82[ASN][1000 genomes] |
| rs4673670 | 0.96[ASN][1000 genomes] |
| rs6717685 | 0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs71426311 | 0.93[AFR][1000 genomes];0.86[EUR][1000 genomes] |
| rs9288454 | 0.96[ASN][1000 genomes] |
| rs938785 | 0.81[AFR][1000 genomes] |
| rs9750629 | 0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv948878 | chr2:213345197-213534298 | Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 2 | nsv524959 | chr2:213468813-213472634 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | n/a |
| 3 | esv3692759 | chr2:213468813-213473115 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:213462600-213483200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
