Variant report

Variant	rs12930060
Chromosome Location	chr16:80230474-80230475
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11150250	0.88[ASN][1000 genomes]
rs11640831	0.87[EUR][1000 genomes]
rs11642380	0.80[EUR][1000 genomes]
rs11642712	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11646831	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11647537	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11648337	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11649346	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11859592	0.80[AMR][1000 genomes]
rs12597962	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12927541	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12927726	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12927869	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12928708	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13380441	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13380491	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13380610	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1478504	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1564222	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16944269	0.84[ASN][1000 genomes]
rs17734652	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17796688	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1904184	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1904186	0.85[EUR][1000 genomes]
rs1904187	0.83[EUR][1000 genomes]
rs2008481	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2061792	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34149818	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34310530	0.84[EUR][1000 genomes]
rs34758462	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4300652	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4405565	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62049508	0.81[AFR][1000 genomes]
rs7193739	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7201276	0.87[EUR][1000 genomes]
rs8046518	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8060188	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8060663	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9673176	0.83[EUR][1000 genomes]
rs9935498	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9935652	0.87[EUR][1000 genomes]
rs9938515	0.85[EUR][1000 genomes]
rs9939067	0.87[EUR][1000 genomes]
rs9944373	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv3450239	chr16:80229851-80232449	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80210400-80231400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:80223400-80232200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:80224200-80231400	Weak transcription	A549	lung
4	chr16:80229400-80231600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:80229800-80231600	Weak transcription	Fetal Stomach	stomach
6	chr16:80230400-80231000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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