Variant report
| Variant | rs2739477 |
|---|---|
| Chromosome Location | chr19:51374191-51374192 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:12)
- CpG islands (count:0)
- Chromatin interactive region (count:11)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:12 , 50 per page) page:
1
| No data |
(count:11 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr19:51303704..51306185-chr19:51373080..51375734,4 | K562 | blood: | |
| 2 | chr19:51339489..51342221-chr19:51372439..51375548,3 | K562 | blood: | |
| 3 | chr19:51306448..51310717-chr19:51372415..51375235,4 | K562 | blood: | |
| 4 | chr19:51304876..51308314-chr19:51372660..51375800,4 | MCF-7 | breast: | |
| 5 | chr19:51372696..51375845-chr19:51379331..51383690,4 | K562 | blood: | |
| 6 | chr19:51373828..51375364-chr19:51376061..51378763,2 | K562 | blood: | |
| 7 | chr19:51303704..51305752-chr19:51372094..51375734,4 | K562 | blood: | |
| 8 | chr19:51292849..51296626-chr19:51372637..51375537,3 | K562 | blood: | |
| 9 | chr19:51297152..51303261-chr19:51371696..51377038,8 | K562 | blood: | |
| 10 | chr19:51306202..51308468-chr19:51372838..51375377,2 | K562 | blood: | |
| 11 | chr19:51296429..51299323-chr19:51371370..51374659,5 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| KLK2 | TF binding region |
| ENSG00000142513 | Chromatin interaction |
| ENSG00000221241 | Chromatin interaction |
| ENSG00000167747 | Chromatin interaction |
| ENSG00000267880 | Chromatin interaction |
| ENSG00000167751 | Chromatin interaction |
| ENSG00000174562 | Chromatin interaction |
| ENSG00000220988 | Chromatin interaction |
| ENSG00000221381 | Chromatin interaction |
| ENSG00000268375 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs1053972 | 0.80[ASN][1000 genomes] |
| rs11084034 | 0.82[ASN][1000 genomes] |
| rs11084038 | 0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs11084039 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs11670728 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs12984214 | 0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12984666 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2569738 | 0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs2569741 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2569743 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2569744 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3760728 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3760730 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62115062 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs6998 | 0.86[ASN][1000 genomes] |
| rs7260115 | 0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1060760 | chr19:50883425-51463712 | ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 99 gene(s) | inside rSNPs | diseases |
| 2 | nsv1058177 | chr19:50984774-51463712 | Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 84 gene(s) | inside rSNPs | diseases |
| 3 | nsv2531 | chr19:51333628-51378597 | Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| 4 | esv2763208 | chr19:51361757-51377163 | ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:51373200-51374200 | Bivalent/Poised TSS | A549 | lung |
| 2 | chr19:51373400-51374200 | Bivalent/Poised TSS | HepG2 | liver |
| 3 | chr19:51373400-51374400 | Flanking Active TSS | K562 | blood |
| 4 | chr19:51373600-51374200 | Enhancers | Placenta | Placenta |
