Variant report
| Variant | rs12756596 |
|---|---|
| Chromosome Location | chr1:193896160-193896161 |
| 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:26)
| rs_ID | r2[population] |
|---|---|
| rs12726896 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs12747764 | 0.87[EUR][1000 genomes] |
| rs1999102 | 0.87[EUR][1000 genomes] |
| rs2182702 | 0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs34429079 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs34856254 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs35282297 | 0.87[EUR][1000 genomes] |
| rs35443285 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs485666 | 0.89[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs486808 | 0.89[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs487631 | 0.89[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs497749 | 0.89[ASN][1000 genomes] |
| rs497769 | 0.89[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs509846 | 0.89[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs514201 | 0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs564851 | 0.89[ASN][1000 genomes] |
| rs608767 | 0.89[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs611732 | 0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs612769 | 0.89[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs61831012 | 0.86[ASN][1000 genomes] |
| rs61831041 | 0.91[ASN][1000 genomes] |
| rs655723 | 0.89[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs657019 | 0.89[ASN][1000 genomes] |
| rs675446 | 0.89[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs72740921 | 0.92[ASN][1000 genomes] |
| rs7535215 | 0.89[EUR][1000 genomes];0.87[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1008266 | chr1:193550185-194481053 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 2 | esv3372415 | chr1:193612172-193988265 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv548663 | chr1:193847597-193901506 | Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 4 | esv3391029 | chr1:193882344-193918949 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 5 | nsv872834 | chr1:193889533-194482304 | Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:193895400-193897400 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
| 2 | chr1:193896000-193897200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
