Variant report
| Variant | rs17002711 |
|---|---|
| Chromosome Location | chr4:78428946-78428947 |
| allele | C/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 | chr4:78428052..78429618-chr4:78431660..78434411,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000156234 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:23)
| rs_ID | r2[population] |
|---|---|
| rs11931481 | 1.00[CHB][hapmap] |
| rs11933932 | 1.00[EUR][1000 genomes] |
| rs11938186 | 1.00[EUR][1000 genomes] |
| rs1500503 | 1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs1604153 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs17002698 | 1.00[EUR][1000 genomes] |
| rs17002731 | 1.00[JPT][hapmap] |
| rs17002732 | 1.00[JPT][hapmap] |
| rs17002734 | 1.00[JPT][hapmap] |
| rs17002735 | 1.00[JPT][hapmap] |
| rs2903238 | 1.00[EUR][1000 genomes] |
| rs41530748 | 1.00[JPT][hapmap] |
| rs4318671 | 1.00[CHB][hapmap];1.00[EUR][1000 genomes] |
| rs58419747 | 1.00[EUR][1000 genomes] |
| rs60009608 | 1.00[EUR][1000 genomes] |
| rs60146447 | 1.00[EUR][1000 genomes] |
| rs60750805 | 1.00[EUR][1000 genomes] |
| rs60782487 | 1.00[EUR][1000 genomes] |
| rs61341260 | 1.00[EUR][1000 genomes] |
| rs7654195 | 1.00[CHB][hapmap];1.00[EUR][1000 genomes] |
| rs7669299 | 0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap] |
| rs7694642 | 0.83[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs9761182 | 1.00[EUR][1000 genomes];1.00[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 | esv3434529 | chr4:78388030-78470631 | Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 2 | nsv829975 | chr4:78426210-78565198 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:78428400-78429000 | Weak transcription | Fetal Muscle Leg | muscle |
