Variant report
| Variant | rs2681748 |
|---|---|
| Chromosome Location | chr14:72815807-72815808 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr14:72806003..72809528-chr14:72813549..72815955,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:26)
| rs_ID | r2[population] |
|---|---|
| rs10138180 | 0.83[AMR][1000 genomes];0.81[ASN][1000 genomes] |
| rs1072167 | 0.83[AMR][1000 genomes];0.84[ASN][1000 genomes] |
| rs2108361 | 0.83[AMR][1000 genomes];0.83[ASN][1000 genomes] |
| rs2108362 | 0.81[AMR][1000 genomes];0.83[ASN][1000 genomes] |
| rs2239224 | 0.83[AMR][1000 genomes];0.86[ASN][1000 genomes] |
| rs2239225 | 0.83[AMR][1000 genomes];0.84[ASN][1000 genomes] |
| rs2239231 | 0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs2332829 | 0.81[AMR][1000 genomes] |
| rs2332831 | 0.83[AMR][1000 genomes];0.83[ASN][1000 genomes] |
| rs2529460 | 0.83[AMR][1000 genomes];0.84[ASN][1000 genomes] |
| rs2529461 | 0.83[AMR][1000 genomes];0.84[ASN][1000 genomes] |
| rs2529466 | 0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs2681754 | 0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs2681765 | 0.83[AMR][1000 genomes];0.84[ASN][1000 genomes] |
| rs4903013 | 0.84[ASN][1000 genomes] |
| rs6574067 | 0.84[ASN][1000 genomes] |
| rs6574068 | 0.81[AMR][1000 genomes];0.83[ASN][1000 genomes] |
| rs6574070 | 0.81[AMR][1000 genomes];0.83[ASN][1000 genomes] |
| rs6574071 | 0.84[ASN][1000 genomes] |
| rs7146606 | 0.84[ASN][1000 genomes] |
| rs7149872 | 0.83[AMR][1000 genomes];0.86[ASN][1000 genomes] |
| rs8022289 | 0.81[AMR][1000 genomes];0.83[ASN][1000 genomes] |
| rs847326 | 0.83[AMR][1000 genomes];0.85[ASN][1000 genomes] |
| rs847327 | 0.83[AMR][1000 genomes];0.85[ASN][1000 genomes] |
| rs847332 | 0.83[AMR][1000 genomes];0.81[ASN][1000 genomes] |
| rs847333 | 0.83[AMR][1000 genomes];0.84[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv530794 | chr14:72113818-73034008 | Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv948800 | chr14:72462557-73150701 | Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 11 gene(s) | inside rSNPs | diseases |
| 3 | esv2757573 | chr14:72802736-72819684 | Weak transcription ZNF genes & repeats Strong transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 4 | esv2759995 | chr14:72802736-72819684 | Weak transcription Enhancers ZNF genes & repeats Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:72814200-72818600 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 2 | chr14:72814800-72818400 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
