Variant report
| Variant | rs56993927 |
|---|---|
| Chromosome Location | chr2:212944667-212944668 |
| 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:29)
| rs_ID | r2[population] |
|---|---|
| rs10197270 | 0.93[ASN][1000 genomes] |
| rs11692869 | 0.95[ASN][1000 genomes] |
| rs12464843 | 0.83[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs12468427 | 0.91[ASN][1000 genomes] |
| rs12473708 | 0.93[ASN][1000 genomes] |
| rs12478950 | 0.87[ASN][1000 genomes] |
| rs1357125 | 0.83[AMR][1000 genomes];0.82[ASN][1000 genomes] |
| rs1357126 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs1464443 | 0.93[ASN][1000 genomes] |
| rs1521550 | 0.82[ASN][1000 genomes] |
| rs1521553 | 0.95[ASN][1000 genomes] |
| rs16847568 | 0.91[ASN][1000 genomes] |
| rs16847580 | 0.93[ASN][1000 genomes] |
| rs17343932 | 0.86[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs17344051 | 0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs17344065 | 0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs17415843 | 0.88[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs17415969 | 0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs1851261 | 0.85[ASN][1000 genomes] |
| rs2139939 | 0.83[ASN][1000 genomes] |
| rs2371436 | 0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs4672636 | 0.98[ASN][1000 genomes] |
| rs4672637 | 1.00[ASN][1000 genomes] |
| rs4672638 | 0.82[ASN][1000 genomes] |
| rs59081924 | 0.81[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs60885616 | 0.91[ASN][1000 genomes] |
| rs61193005 | 0.87[ASN][1000 genomes] |
| rs6712126 | 0.89[ASN][1000 genomes] |
| rs939645 | 0.93[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1011572 | chr2:212840066-213152279 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 2 | nsv875798 | chr2:212852669-212961992 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv875802 | chr2:212867291-213004603 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 4 | nsv875803 | chr2:212874828-212969560 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 5 | nsv875804 | chr2:212891401-212997024 | Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 6 | nsv875805 | chr2:212891401-213164837 | Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:212944600-212945600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
