Variant report
| Variant | rs62323306 |
|---|---|
| Chromosome Location | chr4:125807629-125807630 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:125806088..125809015-chr4:125822425..125824576,2 | MCF-7 | breast: | |
| 2 | chr4:125782896..125785311-chr4:125806709..125809197,2 | MCF-7 | breast: | |
| 3 | chr4:125632895..125634759-chr4:125807417..125811100,3 | MCF-7 | breast: | |
| 4 | chr4:125633614..125636587-chr4:125806033..125809617,4 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000151458 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs10033902 | 0.97[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11734680 | 0.97[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11735485 | 0.91[EUR][1000 genomes] |
| rs13115210 | 0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs13130715 | 0.89[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs1483594 | 0.96[EUR][1000 genomes] |
| rs1483596 | 0.96[EUR][1000 genomes] |
| rs1995627 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs35080385 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs35111270 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs62323300 | 0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs6820187 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs6820944 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs6821373 | 0.97[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs6825198 | 0.80[AMR][1000 genomes] |
| rs6838702 | 0.96[EUR][1000 genomes] |
| rs72685827 | 0.97[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1011752 | chr4:125708756-125932456 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv1001338 | chr4:125708756-126103293 | Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv830050 | chr4:125717858-125888563 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv879884 | chr4:125791252-125841892 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 5 | nsv879885 | chr4:125791252-125852874 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 6 | nsv879886 | chr4:125791252-125856465 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 7 | esv3377839 | chr4:125806152-125809897 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs62323306 | ANKRD50 | cis | Artery Tibial | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:125798200-125820800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
