Variant report
Variant | rs6034299 |
---|---|
Chromosome Location | chr20:15816595-15816596 |
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 |
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No data |
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No data |
rs_ID | r2[population] |
---|---|
rs12480694 | 0.87[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes] |
rs12481296 | 0.88[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes] |
rs16996627 | 0.81[JPT][hapmap] |
rs16996681 | 0.88[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes] |
rs2041420 | 0.86[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2191518 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2191519 | 0.82[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs2327968 | 0.88[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes] |
rs2876414 | 0.90[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes] |
rs4555415 | 0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs4814404 | 0.88[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes] |
rs4814405 | 0.92[ASN][1000 genomes] |
rs4814406 | 0.90[ASN][1000 genomes] |
rs6034302 | 0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs6043561 | 0.89[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes] |
rs6043569 | 0.94[CEU][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs6043570 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6079982 | 0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6079983 | 0.94[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6131728 | 0.81[JPT][hapmap] |
rs6131729 | 0.94[JPT][hapmap] |
rs6131731 | 0.87[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes] |
rs6131733 | 0.81[JPT][hapmap] |
rs6135567 | 0.84[ASN][1000 genomes] |
rs6135568 | 0.89[ASN][1000 genomes] |
rs6135570 | 0.87[JPT][hapmap];0.83[ASN][1000 genomes] |
rs6135571 | 0.80[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes] |
rs6135574 | 0.81[JPT][hapmap] |
rs978767 | 0.86[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs978768 | 0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page:
1
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv869328 | chr20:15325423-16213898 | Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
2 | nsv519883 | chr20:15738086-15817106 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
3 | nsv833929 | chr20:15765372-15977337 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
4 | esv2754713 | chr20:15785800-15816800 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
5 | nsv585645 | chr20:15796051-15817106 | Enhancers Bivalent Enhancer Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
6 | nsv458935 | chr20:15796658-15816595 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
7 | nsv585646 | chr20:15796658-15816595 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
8 | esv3447866 | chr20:15799286-16115291 | Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
9 | nsv585647 | chr20:15802809-15817106 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | inside rSNPs | diseases |
10 | nsv585648 | chr20:15807441-15829235 | Enhancers Bivalent Enhancer Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
11 | nsv518011 | chr20:15813644-15817106 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | inside rSNPs | diseases |
12 | nsv518914 | chr20:15815316-15816595 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:15814400-15816800 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
2 | chr20:15814400-15817400 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
3 | chr20:15815000-15816600 | Weak transcription | Brain Germinal Matrix | brain |
4 | chr20:15815400-15816800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
5 | chr20:15815400-15816800 | Enhancers | Fetal Heart | heart |
6 | chr20:15815800-15829600 | Weak transcription | Fetal Brain Female | brain |