Variant report

Variant	rs7633186
Chromosome Location	chr3:161003124-161003125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160995837..160997723-chr3:161002704..161004824,2	MCF-7	breast:
2	chr3:161002232..161004388-chr3:161087385..161090642,3	MCF-7	breast:
3	chr3:160998590..161004098-chr3:161031167..161035957,5	MCF-7	breast:
4	chr3:161000404..161005732-chr3:161006848..161011862,5	MCF-7	breast:
5	chr3:161002241..161004696-chr3:161089153..161092040,2	MCF-7	breast:
6	chr3:161001819..161012846-chr3:161052557..161065154,32	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196542	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10804790	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1154701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12486253	0.89[EUR][1000 genomes]
rs12493960	0.82[AMR][1000 genomes]
rs12495310	0.88[EUR][1000 genomes]
rs13083229	0.96[CEU][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs1382427	0.85[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1382428	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1478565	0.82[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1478568	0.96[CEU][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs1599374	0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes]
rs1599376	0.82[AMR][1000 genomes]
rs1599378	0.82[AMR][1000 genomes]
rs1600209	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1609688	0.82[AMR][1000 genomes]
rs1610158	0.84[TSI][hapmap]
rs163327	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs163328	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs189270	0.85[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1993891	0.85[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2404340	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28515190	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs336541	0.85[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs336543	0.85[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs336548	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs336567	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs336568	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs336569	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs336570	0.85[CEU][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs336572	0.81[CEU][hapmap]
rs336577	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs336579	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs336580	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs336582	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs336583	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs336585	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs336586	0.89[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs336589	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs336590	0.92[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs336591	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs336593	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs339101	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs3849524	0.80[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4273380	0.85[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4290817	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs4350933	0.87[EUR][1000 genomes]
rs4370045	0.82[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4414866	1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs4470535	0.88[EUR][1000 genomes]
rs4493448	0.87[EUR][1000 genomes]
rs4493449	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs4518145	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4560315	0.88[EUR][1000 genomes]
rs456611	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs457272	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs459515	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs459697	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4597724	0.82[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs460508	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs462514	1.00[CEU][hapmap];0.81[GIH][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs463928	0.85[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs464766	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4856714	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs4856738	0.88[EUR][1000 genomes]
rs4856739	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4856767	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs4856768	0.89[EUR][1000 genomes]
rs55688744	0.85[EUR][1000 genomes]
rs62279921	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6441370	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441371	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6441373	0.85[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6762645	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6765269	0.85[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6765270	0.82[AMR][1000 genomes]
rs6768818	0.86[EUR][1000 genomes]
rs6774276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6775627	0.81[ASW][hapmap];0.84[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6789388	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6791213	0.96[CEU][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs6794601	0.85[CEU][hapmap];0.85[GIH][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs6809256	0.86[EUR][1000 genomes]
rs7611367	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7613227	0.85[EUR][1000 genomes]
rs7613358	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs7615592	0.85[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7623206	0.85[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7627528	0.90[EUR][1000 genomes]
rs7629987	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7632797	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636941	0.87[EUR][1000 genomes]
rs7638668	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7647327	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7652267	0.96[CEU][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs7653233	0.89[EUR][1000 genomes]
rs7653361	0.85[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs899275	0.86[EUR][1000 genomes]
rs9290073	0.84[EUR][1000 genomes]
rs9290074	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs975323	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9790314	0.89[EUR][1000 genomes]
rs9809522	0.88[EUR][1000 genomes]
rs9815222	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs9821201	0.85[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9834659	0.88[EUR][1000 genomes]
rs9839527	0.89[EUR][1000 genomes]
rs9846756	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9850455	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs9864752	0.85[CEU][hapmap]
rs9870059	0.82[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9872514	0.85[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7633186	SPTSSB	cis	Heart Left Ventricle	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160994600-161016800	Weak transcription	Right Ventricle	heart
2	chr3:161002200-161003200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:161002200-161003200	Enhancers	NHDF-Ad	bronchial
4	chr3:161002200-161003400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:161002200-161003600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:161002200-161003600	Enhancers	HMEC	breast
7	chr3:161002200-161004000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:161002400-161003400	Enhancers	NHEK	skin
9	chr3:161002400-161003600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:161003000-161003600	Enhancers	Esophagus	oesophagus

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