Variant report
| Variant | rs1002190 |
|---|---|
| Chromosome Location | chr4:46863794-46863795 |
| 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 | chr4:46847631..46849555-chr4:46863205..46865317,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs10030045 | 0.83[ASN][1000 genomes] |
| rs1123700 | 0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1124442 | 0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11727711 | 0.85[ASN][1000 genomes] |
| rs11735744 | 0.90[ASN][1000 genomes] |
| rs11934342 | 0.90[ASN][1000 genomes] |
| rs12503660 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs12509566 | 0.88[ASN][1000 genomes] |
| rs1588606 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1588607 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2036941 | 0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs28418541 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs28649107 | 0.90[ASN][1000 genomes] |
| rs4312731 | 0.90[ASN][1000 genomes] |
| rs4478161 | 0.86[ASN][1000 genomes] |
| rs4588430 | 0.85[ASN][1000 genomes] |
| rs55809140 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6813531 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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 | nsv879000 | chr4:46635167-46890046 | Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 2 | nsv879001 | chr4:46823634-46893766 | Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:46863600-46864400 | Enhancers | Fetal Brain Male | brain |
