Variant report

Variant	rs1548106
Chromosome Location	chr4:86481601-86481602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10013096	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026950	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10027024	1.00[ASN][1000 genomes]
rs10516749	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10516750	1.00[CEU][hapmap];0.82[JPT][hapmap];0.97[EUR][1000 genomes]
rs10516751	1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1156516	1.00[ASN][1000 genomes]
rs11931565	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11932352	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11936036	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11936794	1.00[ASN][1000 genomes]
rs11937495	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11942163	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11945019	0.82[AFR][1000 genomes]
rs11945092	0.82[AFR][1000 genomes]
rs13114627	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115058	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481772	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481773	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481776	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1481782	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481783	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548105	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548108	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010302	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17010311	0.85[JPT][hapmap]
rs17010321	1.00[ASN][1000 genomes]
rs17010342	1.00[ASN][1000 genomes]
rs17010356	1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17010358	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17010377	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17010389	0.82[AFR][1000 genomes]
rs17010393	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17010402	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17010406	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1905033	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1905035	1.00[ASN][1000 genomes]
rs1905036	1.00[ASN][1000 genomes]
rs1982699	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1982700	0.83[AFR][1000 genomes]
rs1982701	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1994062	0.82[AFR][1000 genomes]
rs1994063	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1994064	0.82[AFR][1000 genomes]
rs1994067	1.00[ASN][1000 genomes]
rs1994069	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1994070	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1994071	1.00[ASN][1000 genomes]
rs1994072	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1994073	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1994074	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2086533	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2086535	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101117	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101118	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101119	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101120	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128091	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128093	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128095	1.00[ASN][1000 genomes]
rs2128096	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2128098	1.00[ASN][1000 genomes]
rs2128099	1.00[ASN][1000 genomes]
rs2170419	0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs2200050	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869351	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2869353	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869354	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869356	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869359	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3960322	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306948	1.00[ASN][1000 genomes]
rs4327478	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4327479	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4348085	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4391024	0.82[AFR][1000 genomes]
rs4431218	1.00[JPT][hapmap]
rs4440206	0.82[AFR][1000 genomes]
rs4450923	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4450924	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4450925	0.82[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4466034	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4467559	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525966	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4535330	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693116	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693706	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693707	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58330660	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59472265	1.00[ASN][1000 genomes]
rs60617422	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6531826	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6531828	1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6531829	0.87[AFR][1000 genomes]
rs6814983	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6828388	1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6828628	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6829120	1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6829628	1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6841899	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs72654089	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654093	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967858	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72967861	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72967867	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72967869	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72967871	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73832792	1.00[ASN][1000 genomes]
rs73832798	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73832799	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7679025	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7684170	1.00[ASN][1000 genomes]
rs7684562	1.00[ASN][1000 genomes]
rs7685458	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7685580	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9307004	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307005	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931179	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931180	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964836	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971422	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971423	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971424	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971425	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971426	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999410	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86475600-86488000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:86475800-86482400	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:86476800-86491800	Weak transcription	NHDF-Ad	bronchial
4	chr4:86477000-86493000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:86477200-86487200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:86477400-86483800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:86477600-86486400	Weak transcription	HSMM	muscle
8	chr4:86477600-86494600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:86478000-86501000	Weak transcription	Right Ventricle	heart
10	chr4:86479000-86486600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:86479000-86493800	Weak transcription	Spleen	Spleen
12	chr4:86479400-86488600	Weak transcription	Psoas Muscle	Psoas
13	chr4:86480800-86483000	Weak transcription	Primary B cells from cord blood	blood

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