Variant report
| Variant | rs72733725 |
|---|---|
| Chromosome Location | chr14:70735593-70735594 |
| allele | A/T |
| 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 | chr14:70512507..70513173-chr14:70735426..70736159,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:37)
| rs_ID | r2[population] |
|---|---|
| rs11623231 | 1.00[AFR][1000 genomes] |
| rs11623788 | 1.00[AFR][1000 genomes] |
| rs11626919 | 1.00[AFR][1000 genomes] |
| rs11628786 | 1.00[AFR][1000 genomes] |
| rs11629081 | 1.00[AFR][1000 genomes] |
| rs12879701 | 1.00[AFR][1000 genomes] |
| rs12880065 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs12889575 | 1.00[AFR][1000 genomes];0.92[EUR][1000 genomes] |
| rs12890852 | 1.00[AFR][1000 genomes] |
| rs12891402 | 1.00[AFR][1000 genomes] |
| rs12898006 | 1.00[AFR][1000 genomes] |
| rs17474359 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17566989 | 1.00[AFR][1000 genomes] |
| rs28617626 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs28696763 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs34506335 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs34668417 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs35034872 | 1.00[AFR][1000 genomes];0.92[EUR][1000 genomes] |
| rs35224988 | 1.00[AFR][1000 genomes] |
| rs35547503 | 1.00[AFR][1000 genomes];0.86[EUR][1000 genomes] |
| rs35660795 | 1.00[ASN][1000 genomes] |
| rs35697534 | 1.00[AFR][1000 genomes];0.86[EUR][1000 genomes] |
| rs55692830 | 1.00[AFR][1000 genomes] |
| rs56113470 | 1.00[AFR][1000 genomes] |
| rs61979508 | 1.00[ASN][1000 genomes] |
| rs67417438 | 1.00[AFR][1000 genomes] |
| rs72731878 | 1.00[AFR][1000 genomes] |
| rs72731882 | 1.00[AFR][1000 genomes] |
| rs72731883 | 1.00[AFR][1000 genomes] |
| rs72731885 | 1.00[AFR][1000 genomes] |
| rs72731887 | 1.00[AFR][1000 genomes] |
| rs72731896 | 1.00[AFR][1000 genomes] |
| rs72731898 | 1.00[AFR][1000 genomes] |
| rs72733705 | 1.00[AFR][1000 genomes] |
| rs72733709 | 1.00[AFR][1000 genomes] |
| rs72733718 | 1.00[AFR][1000 genomes] |
| rs72733739 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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 | nsv902075 | chr14:70612618-70919016 | Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs72733725 | RP11-718G2.3 | cis | Muscle Skeletal | GTEx |
| rs72733725 | COX16 | cis | Muscle Skeletal | GTEx |
| rs72733725 | COX16 | cis | Heart Left Ventricle | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:70723800-70744200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr14:70735400-70736000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
