Variant report

Variant	rs975323
Chromosome Location	chr3:161021322-161021323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:161021008..161023752-chr3:161033340..161034847,2	MCF-7	breast:
2	chr3:161008825..161011229-chr3:161019509..161021871,2	MCF-7	breast:
3	chr3:161020177..161024858-chr3:161085049..161092836,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196542	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10804790	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1154701	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12493960	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1382427	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1382428	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1478565	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1599374	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1599376	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1599378	0.82[AMR][1000 genomes]
rs1599386	0.80[ASN][1000 genomes]
rs1600209	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1609688	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs163327	0.80[EUR][1000 genomes]
rs163328	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs189270	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1993891	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2404340	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28515190	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs336541	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336543	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336548	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336549	0.80[EUR][1000 genomes]
rs336567	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336568	0.83[AMR][1000 genomes]
rs336569	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336570	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336572	0.82[EUR][1000 genomes]
rs336577	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336579	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336580	0.83[AMR][1000 genomes]
rs336582	0.84[AMR][1000 genomes]
rs336583	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336585	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336586	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336589	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336590	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336591	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336593	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs339101	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3849524	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4273380	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4350933	0.96[EUR][1000 genomes]
rs4370045	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4414866	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4493448	0.95[EUR][1000 genomes]
rs4518145	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs455386	0.83[EUR][1000 genomes]
rs456611	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs457272	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs459515	0.83[AMR][1000 genomes]
rs459697	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4597724	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs460165	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs460508	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs461638	0.83[EUR][1000 genomes]
rs4616689	0.80[ASN][1000 genomes]
rs462413	0.83[EUR][1000 genomes]
rs462514	0.83[AMR][1000 genomes]
rs463928	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs464766	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs465985	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs466399	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4856739	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62279921	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6441370	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6441371	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6441373	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6762645	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765269	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765270	0.82[AMR][1000 genomes]
rs6774276	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6774635	0.80[ASN][1000 genomes]
rs6775627	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6789388	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6794601	0.94[EUR][1000 genomes]
rs7611367	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7615592	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623206	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7629987	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7632797	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7633186	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7638668	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7647327	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653233	0.98[EUR][1000 genomes]
rs7653361	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9290073	0.93[EUR][1000 genomes]
rs9290074	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9790314	0.99[EUR][1000 genomes]
rs9821201	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9846756	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9848239	0.80[ASN][1000 genomes]
rs9850455	0.99[EUR][1000 genomes]
rs9863590	0.82[EUR][1000 genomes]
rs9870059	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9872514	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1015063	chr3:160918307-161024070	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv829770	chr3:160989573-161069223	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv4091	chr3:161018540-161063875	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv533237	chr3:161019834-161804660	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	91 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161017000-161021400	Weak transcription	Aorta	Aorta
2	chr3:161017000-161033000	Weak transcription	Left Ventricle	heart
3	chr3:161017600-161032600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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