Variant report
| Variant | rs1234052 |
|---|---|
| Chromosome Location | chr12:42372931-42372932 |
| allele | A/G |
| 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:21)
| rs_ID | r2[population] |
|---|---|
| rs1009723 | 0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs1016659 | 0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs10431604 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs10748323 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs10785320 | 0.83[ASN][1000 genomes] |
| rs1233988 | 0.90[EUR][1000 genomes] |
| rs1233992 | 0.82[EUR][1000 genomes] |
| rs1233994 | 0.82[EUR][1000 genomes] |
| rs1233996 | 0.82[EUR][1000 genomes] |
| rs1234032 | 0.81[EUR][1000 genomes] |
| rs1234034 | 0.81[EUR][1000 genomes] |
| rs1234035 | 0.83[ASN][1000 genomes] |
| rs1234037 | 0.83[EUR][1000 genomes] |
| rs1234038 | 0.83[EUR][1000 genomes] |
| rs1234040 | 0.83[EUR][1000 genomes] |
| rs1234054 | 0.90[EUR][1000 genomes] |
| rs2012636 | 0.83[ASN][1000 genomes] |
| rs2091678 | 0.82[ASN][1000 genomes] |
| rs7957081 | 0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs7958455 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs7958582 | 0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][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 | nsv430505 | chr12:42297931-42720773 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
| 2 | nsv832387 | chr12:42345541-42465505 | Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:42362400-42376000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
