Variant report

Variant	rs1564222
Chromosome Location	chr16:80236311-80236312
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10514488	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11640391	0.81[CEU][hapmap]
rs11642076	0.91[EUR][1000 genomes]
rs11642291	0.92[EUR][1000 genomes]
rs11642380	0.84[CEU][hapmap];0.85[YRI][hapmap]
rs11642712	0.92[CEU][hapmap];0.84[YRI][hapmap]
rs12149733	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12927541	0.85[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.85[YRI][hapmap]
rs12927726	0.85[CEU][hapmap];0.87[CHB][hapmap];0.85[YRI][hapmap]
rs12927869	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12930060	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13380441	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13380491	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13380610	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1564219	0.81[EUR][1000 genomes]
rs17734652	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17796688	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1842025	0.81[ASN][1000 genomes]
rs1904187	0.95[EUR][1000 genomes]
rs1904188	0.81[EUR][1000 genomes]
rs2069012	0.82[AFR][1000 genomes]
rs34149818	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34310530	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34338989	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34758462	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8046518	0.84[AMR][1000 genomes]
rs8060188	0.92[CEU][hapmap]
rs9934453	0.81[EUR][1000 genomes]
rs9935498	0.84[CEU][hapmap];0.82[CHB][hapmap]
rs9938515	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055228	chr16:80207546-80378842	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1061068	chr16:80207546-80537052	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1064093	chr16:80208443-80333301	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv542985	chr16:80208443-80333301	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1059997	chr16:80209367-80247050	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1063466	chr16:80227628-80360463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv906996	chr16:80230224-80334010	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80232000-80237000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr16:80233200-80236400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:80233200-80236600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:80233200-80237200	Weak transcription	NHDF-Ad	bronchial
5	chr16:80233200-80238400	Weak transcription	Fetal Lung	lung
6	chr16:80233400-80236400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:80233400-80236400	Weak transcription	HMEC	breast
8	chr16:80233400-80236400	Weak transcription	NHEK	skin
9	chr16:80233600-80236800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:80236000-80238400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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