Variant report
| Variant | rs1447064 |
|---|---|
| Chromosome Location | chr8:105309904-105309905 |
| 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 | chr19:47729374..47730888-chr8:105309057..105311054,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000265134 | Chromatin interaction |
| ENSG00000105327 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:30)
| rs_ID | r2[population] |
|---|---|
| rs1374526 | 1.00[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs1447074 | 0.82[EUR][1000 genomes] |
| rs1447075 | 1.00[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs1533243 | 0.89[AMR][1000 genomes] |
| rs1838933 | 0.95[EUR][1000 genomes] |
| rs1868011 | 1.00[GIH][hapmap];1.00[MEX][hapmap] |
| rs1868012 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs1966072 | 1.00[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs2001366 | 0.80[EUR][1000 genomes] |
| rs2044532 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2166643 | 1.00[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs2166645 | 0.94[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs2245311 | 0.90[AMR][1000 genomes] |
| rs2441833 | 0.82[EUR][1000 genomes] |
| rs2441836 | 0.94[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs2441837 | 0.89[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs2441864 | 1.00[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs2441867 | 1.00[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs2458416 | 1.00[LWK][hapmap] |
| rs2458420 | 0.82[EUR][1000 genomes] |
| rs2458421 | 1.00[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs2511607 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2511608 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2511611 | 0.94[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs2511628 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2511629 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2514654 | 0.89[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs2514655 | 1.00[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs2514660 | 0.80[EUR][1000 genomes] |
| rs35635989 | 0.80[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1016087 | chr8:105228670-105934368 | Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1447064 | UNC13B | trans | lymphoblastoid | seeQTL |
| rs1447064 | NCALD | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:105306400-105312200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr8:105309400-105310200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
