Variant report
| Variant | rs2730591 |
|---|---|
| Chromosome Location | chr12:119015653-119015654 |
| allele | G/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 |
| rs_ID | r2[population] |
|---|---|
| rs10850996 | 0.83[ASN][1000 genomes] |
| rs1520781 | 0.85[ASN][1000 genomes] |
| rs1851094 | 0.85[ASN][1000 genomes] |
| rs1879401 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1879403 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1970875 | 0.83[ASN][1000 genomes] |
| rs1970877 | 0.86[ASN][1000 genomes] |
| rs2682763 | 0.86[ASN][1000 genomes] |
| rs2682773 | 0.96[ASN][1000 genomes] |
| rs2730568 | 0.82[ASN][1000 genomes] |
| rs2730574 | 0.86[ASN][1000 genomes] |
| rs2730589 | 0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2730590 | 0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs28690202 | 0.81[ASN][1000 genomes] |
| rs4766905 | 0.81[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv930978 | chr12:118866332-119450600 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| 2 | nsv1038601 | chr12:118958107-119023980 | Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv523621 | chr12:118958608-119019143 | Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv560391 | chr12:118958608-119019143 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 5 | nsv1043906 | chr12:118991884-119087146 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 6 | esv1793941 | chr12:119006818-119022988 | Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 7 | esv3443251 | chr12:119012269-119015667 | Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS | n/a | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:119015400-119021000 | Enhancers | Fetal Brain Male | brain |





