Variant report

Variant	rs3857612
Chromosome Location	chr6:56091132-56091133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1012257	0.99[ASN][1000 genomes]
rs1022539	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1033478	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12190324	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12199712	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12199742	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1319111	0.92[CEU][hapmap];0.82[CHB][hapmap];0.80[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1319112	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs13193925	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13209836	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1480	0.82[CHB][hapmap]
rs1555097	0.93[JPT][hapmap]
rs1925138	0.96[ASN][1000 genomes]
rs1925139	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1925141	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs1925143	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1925144	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1925147	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs1925149	0.82[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1925179	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1925180	0.87[ASN][1000 genomes]
rs1925181	0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs1925185	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1925186	0.89[ASN][1000 genomes]
rs1925189	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1980487	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2038149	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2038150	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2206674	1.00[JPT][hapmap]
rs2223600	0.85[AMR][1000 genomes]
rs2328675	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2328677	0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs2397204	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2397206	0.89[ASN][1000 genomes]
rs2397208	0.96[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2397209	0.83[ASN][1000 genomes]
rs2745366	0.93[JPT][hapmap]
rs2745369	0.96[ASN][1000 genomes]
rs2764046	0.81[CHB][hapmap]
rs2764052	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2840995	0.90[ASN][1000 genomes]
rs2841000	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2841006	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2841007	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2876630	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3817983	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs3846918	0.93[JPT][hapmap]
rs3846920	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs3846921	0.93[JPT][hapmap]
rs3846922	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3846923	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3846924	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846925	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857611	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs3996940	0.92[JPT][hapmap]
rs4119567	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4126555	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4126556	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4126557	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4126558	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4140573	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4379279	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4490668	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4495274	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4554321	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4573075	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4596475	0.93[JPT][hapmap]
rs4599643	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4607420	0.90[ASN][1000 genomes]
rs4609034	0.81[ASN][1000 genomes]
rs4712113	0.84[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4715585	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4715588	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4715589	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4715591	0.91[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs4715592	0.96[ASN][1000 genomes]
rs4715593	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4715597	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs6459128	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6459129	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6459133	0.96[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6459134	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6459136	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6904431	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6904899	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6908195	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6909268	0.81[JPT][hapmap]
rs6911907	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6914495	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6914892	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6917593	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6922057	0.90[ASN][1000 genomes]
rs6927421	0.85[AMR][1000 genomes]
rs6927919	0.92[JPT][hapmap]
rs6933151	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6934945	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6935152	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6935200	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6939465	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6939632	0.96[ASN][1000 genomes]
rs7450147	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7754787	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7762422	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7774374	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9296828	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9296830	0.81[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs9357891	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9357892	0.87[ASN][1000 genomes]
rs9357894	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9370485	0.80[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9370486	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9382583	0.92[JPT][hapmap]
rs9382592	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9382595	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9396176	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9396181	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9464348	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9475593	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9475621	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs994667	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885911	chr6:55789704-56143231	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56082200-56104800	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:56085000-56093600	Enhancers	NHDF-Ad	bronchial
3	chr6:56086200-56092600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:56086600-56093200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:56087400-56092400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:56087800-56093200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:56089000-56091600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:56089200-56092200	Weak transcription	Fetal Kidney	kidney
9	chr6:56089200-56092600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:56089200-56095800	Weak transcription	HMEC	breast
11	chr6:56089200-56097600	Weak transcription	Aorta	Aorta
12	chr6:56089400-56095600	Weak transcription	NHEK	skin
13	chr6:56089400-56096000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:56089600-56091200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:56090200-56091400	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:56090400-56091400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:56090400-56091400	Weak transcription	Osteobl	bone
18	chr6:56090400-56091600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:56090800-56091800	Weak transcription	HSMM	muscle
20	chr6:56090800-56092800	Enhancers	Fetal Lung	lung
21	chr6:56091000-56095800	Weak transcription	Rectal Smooth Muscle	rectum

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