Variant report
| Variant | rs30430 |
|---|---|
| Chromosome Location | chr5:111361466-111361467 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:29)
| rs_ID | r2[population] |
|---|---|
| rs10463623 | 0.86[CEU][hapmap] |
| rs10463624 | 0.86[CEU][hapmap] |
| rs11241146 | 0.86[CEU][hapmap] |
| rs1507844 | 0.91[CHB][hapmap] |
| rs1540687 | 0.83[CHB][hapmap] |
| rs168875 | 0.94[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs2047070 | 0.84[CEU][hapmap] |
| rs2048155 | 0.82[CEU][hapmap] |
| rs255910 | 0.97[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs255916 | 0.94[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs256047 | 0.94[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs25790 | 0.82[CHB][hapmap];0.85[JPT][hapmap] |
| rs26543 | 0.84[CEU][hapmap] |
| rs26574 | 0.98[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs28037 | 0.98[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs30294 | 0.95[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs30389 | 0.98[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs30390 | 0.94[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs30391 | 0.94[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs39842 | 0.95[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs39844 | 0.93[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs40568 | 0.93[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs466033 | 0.87[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes] |
| rs491101 | 0.82[ASN][1000 genomes] |
| rs4957627 | 0.87[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs586262 | 0.81[ASN][1000 genomes] |
| rs6594545 | 0.82[CHB][hapmap] |
| rs7716521 | 0.87[CHB][hapmap] |
| rs9326846 | 0.86[CEU][hapmap] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv599367 | chr5:110924280-111602713 | Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
| 2 | nsv1015302 | chr5:111339022-111802947 | Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
| 3 | nsv537861 | chr5:111339022-111802947 | Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS 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 | 26 gene(s) | inside rSNPs | diseases |
| 4 | esv2829846 | chr5:111341445-111435769 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | n/a |
| 5 | esv2763484 | chr5:111352353-111371959 | Weak transcription Enhancers Flanking Active TSS | lncRNA | n/a | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:111359400-111362200 | Enhancers | GM12878-XiMat | blood |
| 2 | chr5:111360600-111361800 | Enhancers | Fetal Lung | lung |
