Variant report

Variant	rs1702294
Chromosome Location	chr1:98501984-98501985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 167 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs10747495	1.00[ASN][1000 genomes]
rs10747496	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10783082	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10875121	0.90[ASN][1000 genomes]
rs10875125	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11165934	0.85[ASN][1000 genomes]
rs11165935	0.90[ASN][1000 genomes]
rs11165937	0.90[ASN][1000 genomes]
rs11165938	0.85[ASN][1000 genomes]
rs11165939	0.85[ASN][1000 genomes]
rs11165940	0.85[ASN][1000 genomes]
rs1198571	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1198572	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1198573	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1198574	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1198575	0.93[ASN][1000 genomes]
rs1198576	0.93[ASN][1000 genomes]
rs1198577	0.93[ASN][1000 genomes]
rs1198578	0.93[ASN][1000 genomes]
rs1198579	0.93[ASN][1000 genomes]
rs1198580	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1198581	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1198582	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1198583	0.93[ASN][1000 genomes]
rs1198588	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1198589	0.93[ASN][1000 genomes]
rs1198590	0.93[ASN][1000 genomes]
rs1198591	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1198592	0.93[ASN][1000 genomes]
rs1198593	0.93[ASN][1000 genomes]
rs1198594	0.93[ASN][1000 genomes]
rs1198596	0.93[ASN][1000 genomes]
rs1198598	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1198600	0.93[ASN][1000 genomes]
rs12067567	0.85[ASN][1000 genomes]
rs12067700	0.85[ASN][1000 genomes]
rs12068763	0.85[ASN][1000 genomes]
rs12069474	0.85[ASN][1000 genomes]
rs12071067	0.85[ASN][1000 genomes]
rs1211661	0.90[ASN][1000 genomes]
rs1622611	0.93[ASN][1000 genomes]
rs1628294	1.00[ASN][1000 genomes]
rs1702291	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1702292	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1702293	1.00[ASN][1000 genomes]
rs1782810	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1782811	1.00[ASN][1000 genomes]
rs1782812	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1782813	1.00[ASN][1000 genomes]
rs1782815	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1782818	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1892549	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1892550	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1892551	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1892552	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1938558	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1938559	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1938560	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1938561	1.00[ASN][1000 genomes]
rs1938562	1.00[ASN][1000 genomes]
rs1938563	0.86[ASN][1000 genomes]
rs1938564	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1938565	1.00[ASN][1000 genomes]
rs1938566	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1938567	1.00[ASN][1000 genomes]
rs1938568	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1938569	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1938571	1.00[ASN][1000 genomes]
rs1938572	0.88[ASN][1000 genomes]
rs1938573	0.82[ASN][1000 genomes]
rs2022864	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2022865	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2154402	1.00[ASN][1000 genomes]
rs2154403	1.00[ASN][1000 genomes]
rs2391873	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2391902	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2391903	1.00[ASN][1000 genomes]
rs2391904	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2391905	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2660298	0.93[ASN][1000 genomes]
rs2660299	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2660300	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2660301	0.93[ASN][1000 genomes]
rs2660303	0.80[ASN][1000 genomes]
rs2660304	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2802525	0.93[ASN][1000 genomes]
rs2802529	0.93[ASN][1000 genomes]
rs2802530	0.93[ASN][1000 genomes]
rs2802531	0.93[ASN][1000 genomes]
rs2802532	0.93[ASN][1000 genomes]
rs2802533	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2802535	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2802536	0.93[ASN][1000 genomes]
rs28582591	0.90[ASN][1000 genomes]
rs28641479	0.90[ASN][1000 genomes]
rs2893376	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41285694	0.93[ASN][1000 genomes]
rs4245673	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4246516	0.90[ASN][1000 genomes]
rs4274102	0.81[ASN][1000 genomes]
rs4292998	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4322261	0.84[ASN][1000 genomes]
rs4411173	1.00[ASN][1000 genomes]
rs4447033	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4477335	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4480407	1.00[ASN][1000 genomes]
rs45522136	0.83[ASN][1000 genomes]
rs4573558	1.00[ASN][1000 genomes]
rs4584446	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4634961	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4950117	1.00[ASN][1000 genomes]
rs4950118	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4950119	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950120	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5005705	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56732321	0.85[ASN][1000 genomes]
rs57468345	0.85[ASN][1000 genomes]
rs61785881	0.90[ASN][1000 genomes]
rs61785882	0.83[ASN][1000 genomes]
rs61785883	0.90[ASN][1000 genomes]
rs61785886	0.97[ASN][1000 genomes]
rs61785888	1.00[ASN][1000 genomes]
rs61786696	0.93[ASN][1000 genomes]
rs61786697	0.93[ASN][1000 genomes]
rs61789075	0.90[ASN][1000 genomes]
rs61789077	0.90[ASN][1000 genomes]
rs61789078	0.90[ASN][1000 genomes]
rs61789079	0.90[ASN][1000 genomes]
rs61789082	0.90[ASN][1000 genomes]
rs6664489	0.85[ASN][1000 genomes]
rs6703588	0.85[ASN][1000 genomes]
rs72963738	0.90[ASN][1000 genomes]
rs9285628	0.90[ASN][1000 genomes]
rs9324378	0.85[ASN][1000 genomes]
rs9324379	0.90[ASN][1000 genomes]
rs9324380	1.00[ASN][1000 genomes]
rs9324381	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9324382	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9324383	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9324384	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9324385	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9324386	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9324387	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9324388	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9324389	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9440288	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9440293	1.00[ASN][1000 genomes]
rs9440393	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9658841	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9659380	0.90[ASN][1000 genomes]
rs9659624	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9659996	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9661157	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9724773	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9725319	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9727941	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9729190	0.85[ASN][1000 genomes]
rs9887831	0.85[ASN][1000 genomes]
rs9887848	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
4	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
5	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
6	nsv470729	chr1:98461443-98564736	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv546874	chr1:98461443-98564736	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv830736	chr1:98488491-98663726	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Schizophrenia	25056061	GWAS catalog

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98497200-98509200	Weak transcription	HUVEC	blood vessel
2	chr1:98500200-98502600	Enhancers	Osteobl	bone
3	chr1:98500200-98508200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:98500800-98502400	Enhancers	Fetal Brain Male	brain
5	chr1:98501200-98506200	Weak transcription	NHDF-Ad	bronchial
6	chr1:98501600-98502400	Enhancers	A549	lung
7	chr1:98501600-98508200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:98501600-98509200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:98501600-98509400	Weak transcription	HSMM	muscle
10	chr1:98501600-98509800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:98501800-98503400	Weak transcription	Fetal Brain Female	brain

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