Variant report

Variant	rs12875111
Chromosome Location	chr13:67078038-67078039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10507739	0.90[CEU][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12019648	0.95[CEU][hapmap]
rs12859352	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12862479	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12867375	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs12867615	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12868791	0.90[CEU][hapmap];0.84[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12868964	0.90[CEU][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12869171	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12869568	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12870336	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12877241	0.81[ASW][hapmap];0.95[CEU][hapmap];0.86[GIH][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1574576	0.93[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap]
rs17081420	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17081458	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17081462	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17081473	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17081495	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1932881	0.90[CEU][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1932882	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1932883	0.90[CEU][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1932886	0.90[CEU][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2324915	0.90[CEU][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34099737	0.93[ASN][1000 genomes]
rs34979741	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35628504	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36068454	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4144493	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4144494	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4379952	0.81[ASW][hapmap];0.95[CEU][hapmap];0.95[GIH][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4516088	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4883779	0.85[JPT][hapmap]
rs4884677	0.92[CHB][hapmap]
rs4884678	0.85[JPT][hapmap]
rs55774405	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56083836	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56729791	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61955971	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61957642	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67609817	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7319523	0.87[CHB][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap]
rs7993413	0.93[ASN][1000 genomes]
rs9317595	0.85[JPT][hapmap]
rs9529074	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9529076	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs9529083	0.81[ASW][hapmap];0.95[CEU][hapmap];0.93[GIH][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9529086	0.90[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9529087	0.90[CEU][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9529092	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9529093	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9540767	0.93[ASN][1000 genomes]
rs9540784	0.81[ASW][hapmap];0.95[CEU][hapmap];0.95[GIH][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs9540785	0.91[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9540786	0.95[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9540787	0.95[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9540788	0.81[ASW][hapmap];0.95[CEU][hapmap];0.84[GIH][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9540789	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9540790	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9540791	0.81[ASW][hapmap];0.95[CEU][hapmap];0.95[GIH][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9540792	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9540793	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9540794	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9540795	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9540796	0.90[CEU][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9540797	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9540799	0.84[JPT][hapmap]
rs9540800	0.90[CEU][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9540801	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9540802	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9540803	0.90[CEU][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9540804	0.85[JPT][hapmap]
rs9540806	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9540809	0.85[JPT][hapmap]
rs9540810	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9540812	0.90[CEU][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9540813	0.90[CEU][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9540817	0.89[CEU][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9540820	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9540821	0.88[GIH][hapmap];0.91[TSI][hapmap]
rs9540824	0.81[GIH][hapmap];0.91[TSI][hapmap]
rs9564319	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs9564320	0.85[JPT][hapmap]
rs9564321	0.85[JPT][hapmap]
rs9571595	0.85[JPT][hapmap]
rs9571596	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530416	chr13:66198235-67126195	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1053763	chr13:66210166-67184972	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541811	chr13:66210166-67184972	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv932195	chr13:66215786-67215733	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv530723	chr13:66219650-67200316	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1052017	chr13:66232288-67213033	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv534503	chr13:66287963-67126195	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv915828	chr13:66544825-67212201	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv1041133	chr13:66723731-67530595	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv1051051	chr13:66948744-67126296	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv900390	chr13:66990736-67094634	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv2757538	chr13:67005812-67119200	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv2759943	chr13:67005812-67119200	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv2422196	chr13:67041890-67295480	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv832639	chr13:67049800-67223701	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67075200-67078800	Enhancers	A549	lung
2	chr13:67076000-67081000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:67076000-67087600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:67076800-67078800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:67077000-67078800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:67077000-67079200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:67077200-67078600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:67077200-67078800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:67077200-67079000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr13:67077200-67079200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr13:67077800-67078200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:67077800-67078400	Enhancers	HSMM	muscle
13	chr13:67078000-67078200	Enhancers	HSMMtube	muscle
14	chr13:67078000-67078400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr13:67078000-67078800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:67078000-67078800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:67078000-67079000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr13:67078000-67079000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr13:67078000-67079000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:67078000-67079000	Enhancers	Hela-S3	cervix

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