Variant report
| Variant | rs10401509 |
|---|---|
| Chromosome Location | chr19:51369975-51369976 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr19:51306397..51308318-chr19:51369356..51371839,3 | K562 | blood: | |
| 2 | chr19:51368140..51370894-chr19:51374787..51377446,2 | K562 | blood: | |
| 3 | chr19:51367668..51370894-chr19:51374787..51378552,5 | K562 | blood: | |
| 4 | chr19:51357036..51359408-chr19:51369066..51370835,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| KLK2 | TF binding region |
| ENSG00000267880 | Chromatin interaction |
| ENSG00000142515 | Chromatin interaction |
| ENSG00000167751 | Chromatin interaction |
| ENSG00000167747 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs10409302 | 1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes] |
| rs10414334 | 0.86[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10419683 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10422030 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1864011 | 1.00[MEX][hapmap] |
| rs3760724 | 0.92[CHB][hapmap];0.89[ASN][1000 genomes] |
| rs3760731 | 1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes] |
| rs58823125 | 1.00[AFR][1000 genomes];0.94[ASN][1000 genomes] |
| rs61548536 | 1.00[AFR][1000 genomes];0.94[ASN][1000 genomes] |
| rs7260326 | 1.00[MEX][hapmap] |
| rs73052441 | 0.88[ASN][1000 genomes] |
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 | 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 |
| 5 | nsv978753 | chr19:51364648-51373616 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
