Variant report
| Variant | rs2218273 |
|---|---|
| Chromosome Location | chr12:41264639-41264640 |
| 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:23)
| rs_ID | r2[population] |
|---|---|
| rs10784938 | 0.82[AFR][1000 genomes] |
| rs11178907 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs12307310 | 0.82[AFR][1000 genomes] |
| rs12313239 | 0.87[AFR][1000 genomes] |
| rs12321296 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1442185 | 0.91[ASN][1000 genomes] |
| rs17128887 | 0.83[AFR][1000 genomes] |
| rs17128906 | 0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs17128908 | 0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs17128913 | 0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs17128925 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes] |
| rs17128926 | 0.86[ASN][1000 genomes] |
| rs17128929 | 0.86[ASN][1000 genomes] |
| rs1928560 | 0.86[ASN][1000 genomes] |
| rs4767991 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes] |
| rs4767993 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes] |
| rs4768318 | 0.80[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs4768320 | 0.86[ASN][1000 genomes] |
| rs4768322 | 0.83[ASN][1000 genomes] |
| rs4768323 | 0.83[ASN][1000 genomes] |
| rs4768324 | 0.83[ASN][1000 genomes] |
| rs59144064 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9652035 | 0.87[AFR][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 | nsv427909 | chr12:41054306-41322257 | Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 2 | nsv832380 | chr12:41132306-41323961 | Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:41226800-41266400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
