Variant report

Variant	rs2101117
Chromosome Location	chr4:86477300-86477301
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10013096	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10027024	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10516749	1.00[ASN][1000 genomes]
rs10516750	0.94[EUR][1000 genomes]
rs10516751	1.00[ASN][1000 genomes]
rs1156516	1.00[ASN][1000 genomes]
rs11931565	1.00[ASN][1000 genomes]
rs11932352	1.00[ASN][1000 genomes]
rs11936036	1.00[ASN][1000 genomes]
rs11936794	1.00[ASN][1000 genomes]
rs11937495	1.00[ASN][1000 genomes]
rs11942163	1.00[ASN][1000 genomes]
rs13114627	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115058	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481772	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481773	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481776	1.00[ASN][1000 genomes]
rs1481782	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481783	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548105	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548106	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548108	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010302	1.00[ASN][1000 genomes]
rs17010321	1.00[ASN][1000 genomes]
rs17010342	1.00[ASN][1000 genomes]
rs17010356	1.00[ASN][1000 genomes]
rs17010358	1.00[ASN][1000 genomes]
rs17010377	1.00[ASN][1000 genomes]
rs17010393	1.00[ASN][1000 genomes]
rs17010402	1.00[ASN][1000 genomes]
rs17010406	1.00[ASN][1000 genomes]
rs1905033	1.00[ASN][1000 genomes]
rs1905035	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1905036	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1982699	1.00[ASN][1000 genomes]
rs1982701	1.00[ASN][1000 genomes]
rs1994063	1.00[ASN][1000 genomes]
rs1994067	1.00[ASN][1000 genomes]
rs1994069	1.00[ASN][1000 genomes]
rs1994070	1.00[ASN][1000 genomes]
rs1994071	1.00[ASN][1000 genomes]
rs1994072	1.00[ASN][1000 genomes]
rs1994073	1.00[ASN][1000 genomes]
rs1994074	1.00[ASN][1000 genomes]
rs2086533	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2086535	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101119	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101120	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128091	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128093	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128095	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2128096	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2128098	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2128099	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2170419	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2200050	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869351	1.00[ASN][1000 genomes]
rs2869353	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869354	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869356	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869359	1.00[ASN][1000 genomes]
rs3960322	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306948	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4327478	1.00[ASN][1000 genomes]
rs4327479	1.00[ASN][1000 genomes]
rs4348085	1.00[ASN][1000 genomes]
rs4450923	1.00[ASN][1000 genomes]
rs4450924	1.00[ASN][1000 genomes]
rs4450925	1.00[ASN][1000 genomes]
rs4466034	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4467559	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525966	1.00[ASN][1000 genomes]
rs4535330	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693116	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693706	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693707	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58330660	1.00[ASN][1000 genomes]
rs59472265	1.00[ASN][1000 genomes]
rs60617422	1.00[ASN][1000 genomes]
rs6531826	1.00[ASN][1000 genomes]
rs6531828	1.00[ASN][1000 genomes]
rs6814983	1.00[ASN][1000 genomes]
rs6828388	1.00[ASN][1000 genomes]
rs6828628	1.00[ASN][1000 genomes]
rs6829120	1.00[ASN][1000 genomes]
rs6829628	1.00[ASN][1000 genomes]
rs6841899	1.00[ASN][1000 genomes]
rs72654089	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654093	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967858	1.00[ASN][1000 genomes]
rs72967861	1.00[ASN][1000 genomes]
rs72967867	1.00[ASN][1000 genomes]
rs72967869	1.00[ASN][1000 genomes]
rs72967871	1.00[ASN][1000 genomes]
rs73832792	1.00[ASN][1000 genomes]
rs73832798	1.00[ASN][1000 genomes]
rs73832799	1.00[ASN][1000 genomes]
rs7679025	1.00[ASN][1000 genomes]
rs7684170	1.00[ASN][1000 genomes]
rs7684562	1.00[ASN][1000 genomes]
rs7685458	1.00[ASN][1000 genomes]
rs7685580	1.00[ASN][1000 genomes]
rs9307004	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307005	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931179	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931180	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964836	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971423	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971424	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971425	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971426	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999410	0.91[AMR][1000 genomes];0.97[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86466800-86480600	Weak transcription	Esophagus	oesophagus
2	chr4:86474400-86477800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:86475600-86488000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:86475800-86482400	Enhancers	Primary B cells from peripheral blood	blood
5	chr4:86476200-86477600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:86476200-86478200	Enhancers	GM12878-XiMat	blood
7	chr4:86476400-86479400	Enhancers	Primary B cells from cord blood	blood
8	chr4:86476600-86477600	Enhancers	Spleen	Spleen
9	chr4:86476600-86478000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:86476600-86478000	Enhancers	Lung	lung
11	chr4:86476600-86479400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:86476800-86477400	Enhancers	Right Ventricle	heart
13	chr4:86476800-86478200	Enhancers	Right Atrium	heart
14	chr4:86476800-86491800	Weak transcription	NHDF-Ad	bronchial
15	chr4:86477000-86477600	Enhancers	HSMM	muscle
16	chr4:86477000-86477600	Enhancers	HSMMtube	muscle
17	chr4:86477000-86478000	Weak transcription	Pancreas	Pancrea
18	chr4:86477000-86493000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:86477200-86477400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:86477200-86478600	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:86477200-86480400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:86477200-86487200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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