Variant report
| Variant | rs1989912 |
|---|---|
| Chromosome Location | chr12:47406876-47406877 |
| allele | A/C |
| 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:24)
| rs_ID | r2[population] |
|---|---|
| rs10785651 | 0.82[ASN][1000 genomes] |
| rs10881039 | 0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs11183661 | 0.81[CEU][hapmap] |
| rs11183677 | 0.92[EUR][1000 genomes] |
| rs11183699 | 1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs11183706 | 0.82[ASN][1000 genomes] |
| rs11183710 | 0.94[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs11183711 | 0.95[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs2263492 | 0.86[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs2408647 | 0.87[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs2522258 | 0.83[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs2522263 | 0.81[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs2522269 | 0.87[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs34142537 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs4768770 | 0.92[EUR][1000 genomes] |
| rs7134654 | 0.94[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs7305847 | 0.85[EUR][1000 genomes] |
| rs7956438 | 0.93[EUR][1000 genomes] |
| rs7958568 | 0.96[CEU][hapmap];0.92[EUR][1000 genomes] |
| rs7960974 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs7971310 | 1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs7971796 | 0.92[EUR][1000 genomes] |
| rs7972871 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs7978950 | 0.90[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv1845143 | chr12:47051076-47431496 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 2 | nsv469368 | chr12:47374908-47675680 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
| 3 | nsv558784 | chr12:47374908-47675680 | Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
| 4 | nsv983436 | chr12:47398417-47411538 | Weak transcription Enhancers Flanking Active TSS Active TSS | Chromatin interactive region | 2 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:47394800-47407800 | Weak transcription | HSMM | muscle |
| 2 | chr12:47403600-47408200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
