Variant report

Variant	rs12069474
Chromosome Location	chr1:98438135-98438136
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 189 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:183)

rs_ID	r²[population]
rs10747488	0.82[ASN][1000 genomes]
rs10747490	0.88[ASN][1000 genomes]
rs10747491	0.88[ASN][1000 genomes]
rs10747492	0.88[ASN][1000 genomes]
rs10747495	0.85[ASN][1000 genomes]
rs10747496	0.85[ASN][1000 genomes]
rs10783082	0.85[ASN][1000 genomes]
rs10875111	0.88[ASN][1000 genomes]
rs10875112	0.88[ASN][1000 genomes]
rs10875113	0.88[ASN][1000 genomes]
rs10875118	0.82[ASN][1000 genomes]
rs10875120	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10875121	0.94[ASN][1000 genomes]
rs10875125	0.85[ASN][1000 genomes]
rs11165920	0.88[ASN][1000 genomes]
rs11165921	0.88[ASN][1000 genomes]
rs11165934	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165935	0.94[ASN][1000 genomes]
rs11165937	0.94[ASN][1000 genomes]
rs11165938	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165939	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165940	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1198571	0.85[ASN][1000 genomes]
rs1198572	0.85[ASN][1000 genomes]
rs1198573	0.85[ASN][1000 genomes]
rs1198574	0.85[ASN][1000 genomes]
rs12062845	0.88[ASN][1000 genomes]
rs12067567	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067700	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12068763	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12071067	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12072739	0.94[ASN][1000 genomes]
rs12073487	0.94[ASN][1000 genomes]
rs12077442	0.82[ASN][1000 genomes]
rs12077962	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12089031	0.94[ASN][1000 genomes]
rs12406713	0.88[ASN][1000 genomes]
rs1628294	0.85[ASN][1000 genomes]
rs1702293	0.85[ASN][1000 genomes]
rs1702294	0.85[ASN][1000 genomes]
rs17379561	0.82[ASN][1000 genomes]
rs1782810	0.85[ASN][1000 genomes]
rs1782811	0.85[ASN][1000 genomes]
rs1782813	0.85[ASN][1000 genomes]
rs1782815	0.85[ASN][1000 genomes]
rs1801265	0.88[ASN][1000 genomes]
rs1892549	0.85[ASN][1000 genomes]
rs1892550	0.85[ASN][1000 genomes]
rs1892551	0.85[ASN][1000 genomes]
rs1892552	0.85[ASN][1000 genomes]
rs1938558	0.85[ASN][1000 genomes]
rs1938559	0.85[ASN][1000 genomes]
rs1938560	0.85[ASN][1000 genomes]
rs1938561	0.85[ASN][1000 genomes]
rs1938562	0.85[ASN][1000 genomes]
rs1938564	0.85[ASN][1000 genomes]
rs1938565	0.85[ASN][1000 genomes]
rs1938567	0.85[ASN][1000 genomes]
rs1938568	0.85[ASN][1000 genomes]
rs1938569	0.85[ASN][1000 genomes]
rs1938571	0.85[ASN][1000 genomes]
rs2022865	0.85[ASN][1000 genomes]
rs2154402	0.85[ASN][1000 genomes]
rs2154403	0.85[ASN][1000 genomes]
rs2391873	0.85[ASN][1000 genomes]
rs2391902	0.85[ASN][1000 genomes]
rs2391903	0.85[ASN][1000 genomes]
rs2391904	0.85[ASN][1000 genomes]
rs2391905	0.82[ASN][1000 genomes]
rs2660304	0.85[ASN][1000 genomes]
rs2802535	0.82[ASN][1000 genomes]
rs28582591	0.94[ASN][1000 genomes]
rs28641479	0.94[ASN][1000 genomes]
rs2893376	0.85[ASN][1000 genomes]
rs41285694	0.91[ASN][1000 genomes]
rs4245673	0.85[ASN][1000 genomes]
rs4246515	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4246516	0.94[ASN][1000 genomes]
rs4274102	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4292998	0.85[ASN][1000 genomes]
rs4294451	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4322261	0.88[ASN][1000 genomes]
rs4372296	0.94[ASN][1000 genomes]
rs4375301	0.82[ASN][1000 genomes]
rs4378243	0.82[ASN][1000 genomes]
rs4379706	0.94[ASN][1000 genomes]
rs4394693	0.88[ASN][1000 genomes]
rs4394694	0.82[ASN][1000 genomes]
rs4399192	0.82[ASN][1000 genomes]
rs4411173	0.85[ASN][1000 genomes]
rs4421623	0.94[ASN][1000 genomes]
rs4423049	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4456128	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4477335	0.85[ASN][1000 genomes]
rs4478846	0.82[ASN][1000 genomes]
rs4480407	0.85[ASN][1000 genomes]
rs4495746	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4506495	0.82[ASN][1000 genomes]
rs4523551	0.88[ASN][1000 genomes]
rs4523552	0.88[ASN][1000 genomes]
rs4546957	0.83[ASN][1000 genomes]
rs45522136	0.88[ASN][1000 genomes]
rs4573558	0.85[ASN][1000 genomes]
rs4584446	0.85[ASN][1000 genomes]
rs4598523	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4634961	0.85[ASN][1000 genomes]
rs4950117	0.85[ASN][1000 genomes]
rs4950118	0.85[ASN][1000 genomes]
rs4950119	0.85[ASN][1000 genomes]
rs4950120	0.85[ASN][1000 genomes]
rs4970719	0.94[ASN][1000 genomes]
rs4970720	0.88[ASN][1000 genomes]
rs4970721	0.88[ASN][1000 genomes]
rs4970722	0.88[ASN][1000 genomes]
rs4970723	0.88[ASN][1000 genomes]
rs4970725	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5005705	0.85[ASN][1000 genomes]
rs56732321	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57468345	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61785881	0.94[ASN][1000 genomes]
rs61785882	0.88[ASN][1000 genomes]
rs61785883	0.94[ASN][1000 genomes]
rs61785886	0.88[ASN][1000 genomes]
rs61785888	0.85[ASN][1000 genomes]
rs61787782	0.94[ASN][1000 genomes]
rs61787783	0.82[ASN][1000 genomes]
rs61787784	0.82[ASN][1000 genomes]
rs61787785	0.82[ASN][1000 genomes]
rs61787819	0.88[ASN][1000 genomes]
rs61787820	0.88[ASN][1000 genomes]
rs61787823	0.82[EUR][1000 genomes]
rs61787826	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61787829	0.82[ASN][1000 genomes]
rs61787830	0.82[ASN][1000 genomes]
rs61789075	0.94[ASN][1000 genomes]
rs61789077	0.94[ASN][1000 genomes]
rs61789078	0.94[ASN][1000 genomes]
rs61789079	0.94[ASN][1000 genomes]
rs61789082	0.94[ASN][1000 genomes]
rs6604093	0.88[ASN][1000 genomes]
rs6604098	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6658412	0.94[ASN][1000 genomes]
rs6664489	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677116	0.88[ASN][1000 genomes]
rs6703588	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72963738	0.94[ASN][1000 genomes]
rs7415086	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7524038	0.88[ASN][1000 genomes]
rs7526108	0.94[ASN][1000 genomes]
rs9285628	0.94[ASN][1000 genomes]
rs9324374	0.88[ASN][1000 genomes]
rs9324378	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9324379	0.94[ASN][1000 genomes]
rs9324380	0.85[ASN][1000 genomes]
rs9324381	0.85[ASN][1000 genomes]
rs9324382	0.85[ASN][1000 genomes]
rs9324383	0.85[ASN][1000 genomes]
rs9324384	0.85[ASN][1000 genomes]
rs9324385	0.85[ASN][1000 genomes]
rs9324386	0.85[ASN][1000 genomes]
rs9324387	0.85[ASN][1000 genomes]
rs9324388	0.85[ASN][1000 genomes]
rs9324389	0.85[ASN][1000 genomes]
rs9440288	0.85[ASN][1000 genomes]
rs9440293	0.85[ASN][1000 genomes]
rs9440393	0.85[ASN][1000 genomes]
rs9658841	0.85[ASN][1000 genomes]
rs9659380	0.94[ASN][1000 genomes]
rs9659624	0.85[ASN][1000 genomes]
rs9661157	0.85[ASN][1000 genomes]
rs9661794	0.88[ASN][1000 genomes]
rs9662232	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9662719	0.82[ASN][1000 genomes]
rs9662870	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9724773	0.85[ASN][1000 genomes]
rs9725319	0.85[ASN][1000 genomes]
rs9727548	0.82[ASN][1000 genomes]
rs9727941	0.85[ASN][1000 genomes]
rs9727976	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9729190	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9729897	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9887831	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9887848	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830725	chr1:98257894-98443497	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv871077	chr1:98274132-98541677	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1009621	chr1:98435638-98599284	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv871230	chr1:98436232-98564736	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98409600-98455000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:98428800-98442400	Weak transcription	Fetal Brain Female	brain
3	chr1:98429800-98443000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:98433000-98439200	Weak transcription	NHDF-Ad	bronchial
5	chr1:98436400-98440800	Weak transcription	Osteobl	bone
6	chr1:98438000-98460200	Weak transcription	HSMM	muscle

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