Variant report
| Variant | rs7672230 |
|---|---|
| Chromosome Location | chr4:125717041-125717042 |
| allele | C/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 | chr4:125702474..125705309-chr4:125716481..125718670,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:40)
| rs_ID | r2[population] |
|---|---|
| rs10031582 | 0.89[ASN][1000 genomes] |
| rs10518453 | 0.88[ASN][1000 genomes] |
| rs1112007 | 0.88[ASN][1000 genomes] |
| rs1156517 | 0.87[ASN][1000 genomes] |
| rs11943658 | 0.96[ASN][1000 genomes] |
| rs13101993 | 0.81[ASN][1000 genomes] |
| rs13109378 | 0.83[AFR][1000 genomes];0.96[ASN][1000 genomes] |
| rs13111027 | 0.91[ASN][1000 genomes] |
| rs13113484 | 0.96[ASN][1000 genomes] |
| rs13119552 | 0.93[ASN][1000 genomes] |
| rs13124340 | 0.93[ASN][1000 genomes] |
| rs13124562 | 0.88[ASN][1000 genomes] |
| rs13133825 | 0.93[ASN][1000 genomes] |
| rs13137556 | 0.93[ASN][1000 genomes] |
| rs1395330 | 0.88[ASN][1000 genomes] |
| rs17008674 | 0.93[ASN][1000 genomes] |
| rs17008677 | 0.88[ASN][1000 genomes] |
| rs2036203 | 0.88[ASN][1000 genomes] |
| rs2055273 | 0.91[ASN][1000 genomes] |
| rs28427235 | 0.91[ASN][1000 genomes] |
| rs313997 | 0.91[ASN][1000 genomes] |
| rs34078885 | 0.96[ASN][1000 genomes] |
| rs34813358 | 0.93[ASN][1000 genomes] |
| rs35452496 | 0.93[ASN][1000 genomes] |
| rs35728397 | 0.93[ASN][1000 genomes] |
| rs36040717 | 0.93[ASN][1000 genomes] |
| rs4834006 | 0.89[ASN][1000 genomes] |
| rs55741225 | 0.93[ASN][1000 genomes] |
| rs56138521 | 0.93[ASN][1000 genomes] |
| rs57205016 | 0.93[ASN][1000 genomes] |
| rs58445385 | 0.83[ASN][1000 genomes] |
| rs58661679 | 0.96[ASN][1000 genomes] |
| rs61231754 | 0.91[ASN][1000 genomes] |
| rs66521462 | 0.85[AFR][1000 genomes];0.96[ASN][1000 genomes] |
| rs6830179 | 0.91[ASN][1000 genomes] |
| rs6840646 | 0.96[ASN][1000 genomes] |
| rs6841569 | 0.84[ASN][1000 genomes] |
| rs71610103 | 0.96[ASN][1000 genomes] |
| rs72916676 | 0.96[ASN][1000 genomes] |
| rs73848114 | 0.85[AFR][1000 genomes];0.96[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 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 |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7672230 | ANKRD50 | cis | Artery Tibial | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:125717000-125717400 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
