Variant report
| Variant | rs6732077 |
|---|---|
| Chromosome Location | chr2:134277534-134277535 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:54)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
(count:2 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| NCKAP5 | TF binding region |
rSNPs within LD-proxies of this variant (count:34)
| rs_ID | r2[population] |
|---|---|
| rs1016837 | 0.85[AMR][1000 genomes] |
| rs1017366 | 0.81[EUR][1000 genomes] |
| rs11891880 | 0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11903204 | 0.81[EUR][1000 genomes] |
| rs16826050 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs16826052 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs60316439 | 0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61578634 | 0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6720995 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6730679 | 0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72990470 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72990471 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72990476 | 0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72990483 | 0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72990486 | 0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72990490 | 0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72990493 | 0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72990494 | 0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72992306 | 0.81[EUR][1000 genomes] |
| rs72992325 | 0.81[EUR][1000 genomes] |
| rs72992334 | 0.81[EUR][1000 genomes] |
| rs72992339 | 0.81[EUR][1000 genomes] |
| rs72992347 | 0.81[EUR][1000 genomes] |
| rs72992351 | 0.81[EUR][1000 genomes] |
| rs72992377 | 0.81[EUR][1000 genomes] |
| rs73003136 | 1.00[EUR][1000 genomes] |
| rs73003138 | 0.97[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73003141 | 0.97[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73003144 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73003146 | 0.97[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73003147 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7340446 | 1.00[EUR][1000 genomes] |
| rs7340510 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs9917399 | 1.00[AMR][1000 genomes];1.00[EUR][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 | nsv997821 | chr2:133868822-134360220 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
| 2 | nsv535927 | chr2:133868822-134360220 | Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
| 3 | nsv1003624 | chr2:134126928-134583203 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 4 | esv2830192 | chr2:134259612-134311713 | Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 5 | nsv1006101 | chr2:134263288-134973917 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 14 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:134268200-134290000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr2:134274200-134281600 | Strong transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 3 | chr2:134275600-134279600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 4 | chr2:134276800-134279000 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 5 | chr2:134277200-134279000 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 6 | chr2:134277200-134279200 | Weak transcription | NHDF-Ad | bronchial |
| 7 | chr2:134277400-134278400 | Weak transcription | Hela-S3 | cervix |
