Variant report
| Variant | rs4478364 |
|---|---|
| Chromosome Location | chr5:108034831-108034832 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr5:108032636..108035213-chr5:108063314..108064932,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000272523 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs11958060 | 0.84[ASN][1000 genomes] |
| rs13179785 | 0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs1396443 | 0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs1472917 | 0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs1472918 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2048212 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2174973 | 0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2174974 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs4587121 | 0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs4957782 | 0.81[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs6887824 | 0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7445987 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7711900 | 0.84[ASN][1000 genomes] |
| rs7712018 | 0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs9326745 | 0.84[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv882689 | chr5:107595383-108299744 | Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 61 gene(s) | inside rSNPs | diseases |
| 2 | nsv980959 | chr5:108023194-108043010 | Enhancers Weak transcription | Chromatin interactive region | 3 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:108034800-108035000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
