Variant report
| Variant | rs12996552 |
|---|---|
| Chromosome Location | chr2:184381221-184381222 |
| 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:36)
| rs_ID | r2[population] |
|---|---|
| rs10497627 | 0.99[ASN][1000 genomes] |
| rs10754996 | 0.98[ASN][1000 genomes] |
| rs10931086 | 0.99[ASN][1000 genomes] |
| rs10931087 | 0.99[ASN][1000 genomes] |
| rs11676026 | 0.96[ASN][1000 genomes] |
| rs11695835 | 0.98[ASN][1000 genomes] |
| rs11897765 | 1.00[ASN][1000 genomes] |
| rs13026970 | 1.00[ASN][1000 genomes] |
| rs1406334 | 0.99[ASN][1000 genomes] |
| rs16824632 | 0.97[ASN][1000 genomes] |
| rs16824647 | 0.97[ASN][1000 genomes] |
| rs16824699 | 0.95[ASN][1000 genomes] |
| rs16824710 | 0.92[ASN][1000 genomes] |
| rs1919276 | 0.80[AFR][1000 genomes];0.96[ASN][1000 genomes] |
| rs1919278 | 0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs2118477 | 0.97[ASN][1000 genomes] |
| rs2141414 | 0.96[ASN][1000 genomes] |
| rs4572562 | 0.99[ASN][1000 genomes] |
| rs4574075 | 0.97[ASN][1000 genomes] |
| rs4666922 | 0.96[ASN][1000 genomes] |
| rs56302218 | 0.84[AFR][1000 genomes];0.99[ASN][1000 genomes] |
| rs58390523 | 0.97[ASN][1000 genomes] |
| rs59553799 | 0.97[ASN][1000 genomes] |
| rs59974361 | 0.97[ASN][1000 genomes] |
| rs60090891 | 0.97[ASN][1000 genomes] |
| rs60345524 | 1.00[ASN][1000 genomes] |
| rs66879817 | 0.97[ASN][1000 genomes] |
| rs6706093 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs6722136 | 0.91[ASN][1000 genomes] |
| rs6750117 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs6750378 | 0.89[ASN][1000 genomes] |
| rs67951091 | 0.97[ASN][1000 genomes] |
| rs73044524 | 0.97[ASN][1000 genomes] |
| rs73044536 | 0.88[AFR][1000 genomes];0.96[ASN][1000 genomes] |
| rs73977910 | 0.97[ASN][1000 genomes] |
| rs7558499 | 0.99[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 | nsv508188 | chr2:184353162-184383232 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 2 | nsv1012672 | chr2:184363204-184571778 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | esv2757843 | chr2:184368473-184558908 | Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 4 | esv2759105 | chr2:184368473-184558908 | Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 5 | nsv428729 | chr2:184368473-184558908 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:184378200-184385000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr2:184381200-184381400 | Enhancers | Rectal Mucosa Donor 31 | rectum |
