Variant report

Variant	rs1264933
Chromosome Location	chr8:102852289-102852290
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102847583..102849623-chr8:102851249..102854014,2	MCF-7	breast:
2	chr8:102848832..102850431-chr8:102850962..102852555,2	MCF-7	breast:

Extended variants
information (count: 160 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs10091905	0.83[CEU][hapmap]
rs10094868	0.83[CEU][hapmap]
rs10216921	0.83[CEU][hapmap]
rs10505012	0.83[CEU][hapmap]
rs1073373	0.88[CEU][hapmap]
rs1077500	0.83[CEU][hapmap]
rs1077998	0.82[CEU][hapmap]
rs10808377	0.83[CEU][hapmap]
rs10808378	0.82[CEU][hapmap]
rs10808379	1.00[CEU][hapmap]
rs10955274	0.87[CEU][hapmap]
rs1111884	0.83[CEU][hapmap]
rs1111886	0.88[CEU][hapmap]
rs1144545	0.87[AMR][1000 genomes]
rs1148496	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap];0.97[ASN][1000 genomes]
rs1148497	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1148498	0.93[CHB][hapmap];0.92[ASN][1000 genomes]
rs1148499	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.96[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1148501	0.87[ASN][1000 genomes]
rs11782123	0.87[CEU][hapmap]
rs12334693	1.00[CEU][hapmap]
rs12545537	0.83[CEU][hapmap]
rs12550570	0.83[CEU][hapmap]
rs1264865	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.97[ASN][1000 genomes]
rs1264866	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.92[ASN][1000 genomes]
rs1264930	0.83[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1264931	0.94[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.82[MEX][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1264932	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1264952	0.87[ASN][1000 genomes]
rs1264953	0.81[ASN][1000 genomes]
rs1264954	0.87[ASN][1000 genomes]
rs12677525	0.88[CEU][hapmap]
rs1272384	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1313944	0.86[AMR][1000 genomes]
rs13251735	1.00[CEU][hapmap]
rs13268186	0.83[CEU][hapmap]
rs13281055	0.83[CEU][hapmap]
rs1465167	0.83[CEU][hapmap]
rs1557336	0.88[CEU][hapmap]
rs17406994	0.87[CEU][hapmap]
rs1893366	1.00[CEU][hapmap]
rs2032121	0.83[CEU][hapmap]
rs2154652	0.83[CEU][hapmap]
rs2155938	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2155939	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2155940	0.94[CHB][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2155941	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2155942	0.83[CEU][hapmap]
rs2186392	0.83[CEU][hapmap]
rs2186393	0.83[CEU][hapmap]
rs2226724	0.88[CEU][hapmap]
rs2387616	0.83[CEU][hapmap]
rs2387618	0.83[CEU][hapmap]
rs2387619	0.83[CEU][hapmap]
rs2509895	0.89[ASN][1000 genomes]
rs28623673	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2892324	0.85[CEU][hapmap]
rs472471	1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs472638	0.92[GIH][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes]
rs472963	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734040	0.83[CEU][hapmap]
rs4734593	0.83[CEU][hapmap]
rs4734594	0.83[CEU][hapmap]
rs4734595	0.88[CEU][hapmap]
rs477236	0.83[AMR][1000 genomes]
rs478092	1.00[GIH][hapmap]
rs478189	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs478875	0.93[CHB][hapmap];0.90[ASN][1000 genomes]
rs478896	0.81[AMR][1000 genomes]
rs478917	0.81[ASW][hapmap];0.86[GIH][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes]
rs479041	0.82[ASW][hapmap];0.97[GIH][hapmap];0.82[LWK][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs480570	0.87[AMR][1000 genomes]
rs480955	0.87[AMR][1000 genomes]
rs481545	0.87[AMR][1000 genomes]
rs484657	0.83[GIH][hapmap]
rs485252	0.86[AMR][1000 genomes]
rs485263	0.86[AMR][1000 genomes]
rs485363	0.86[AMR][1000 genomes]
rs486196	0.87[AMR][1000 genomes]
rs488034	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs489973	0.97[GIH][hapmap];0.82[LWK][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs490032	0.89[GIH][hapmap]
rs490125	0.82[GIH][hapmap]
rs494352	0.87[AMR][1000 genomes]
rs495636	0.87[AMR][1000 genomes]
rs497905	0.86[AMR][1000 genomes]
rs502334	0.87[AMR][1000 genomes]
rs512202	0.83[GIH][hapmap]
rs513472	0.86[GIH][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes]
rs519197	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs520880	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs526533	0.86[AMR][1000 genomes]
rs529684	0.86[GIH][hapmap];0.82[LWK][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes]
rs531624	0.87[AMR][1000 genomes]
rs534512	0.94[CHB][hapmap];0.92[ASN][1000 genomes]
rs537941	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[ASN][1000 genomes]
rs539663	0.94[CHB][hapmap];0.90[ASN][1000 genomes]
rs540459	0.86[GIH][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes]
rs544928	0.83[AMR][1000 genomes]
rs549281	0.86[GIH][hapmap];0.85[TSI][hapmap]
rs550281	0.86[GIH][hapmap]
rs551295	0.94[GIH][hapmap];0.88[TSI][hapmap]
rs554036	0.94[CHB][hapmap]
rs554945	0.86[GIH][hapmap]
rs558772	0.85[AMR][1000 genomes]
rs563463	0.97[GIH][hapmap];0.82[TSI][hapmap]
rs564718	1.00[GIH][hapmap]
rs566264	0.87[AMR][1000 genomes]
rs566315	0.87[AMR][1000 genomes]
rs566392	0.97[GIH][hapmap];0.82[LWK][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs566501	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs568194	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs569015	0.87[AMR][1000 genomes]
rs569787	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs576173	0.87[AMR][1000 genomes]
rs577756	0.87[AMR][1000 genomes]
rs578603	0.82[AMR][1000 genomes]
rs6468793	0.88[CEU][hapmap]
rs6468794	0.88[CEU][hapmap]
rs6468795	0.88[CEU][hapmap]
rs6468796	0.88[CEU][hapmap]
rs6468798	0.88[CEU][hapmap]
rs6468799	0.88[CEU][hapmap]
rs6468801	0.92[CEU][hapmap]
rs67887846	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984260	0.88[CEU][hapmap]
rs6988793	0.83[CEU][hapmap]
rs6991592	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6997574	0.83[CEU][hapmap]
rs7000357	0.96[CEU][hapmap]
rs7001437	0.83[CEU][hapmap]
rs7002547	0.83[CEU][hapmap]
rs7008826	0.83[CEU][hapmap]
rs7009385	0.83[CEU][hapmap]
rs7011941	0.96[CEU][hapmap]
rs7012512	0.87[CEU][hapmap]
rs7015311	0.88[CEU][hapmap]
rs7017754	0.88[CEU][hapmap]
rs7813132	0.82[CEU][hapmap]
rs7827304	0.80[CEU][hapmap]
rs7827691	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7827941	0.88[CEU][hapmap]
rs7828175	0.85[EUR][1000 genomes]
rs7829693	0.83[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs7830291	0.83[CEU][hapmap]
rs7835223	0.96[CEU][hapmap]
rs7835485	0.88[CEU][hapmap]
rs7838696	1.00[CEU][hapmap]
rs7842147	0.85[EUR][1000 genomes]
rs8181022	1.00[CEU][hapmap]
rs8181025	0.96[CEU][hapmap]
rs9297313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9693504	0.82[CEU][hapmap]
rs9693531	0.83[CEU][hapmap]

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	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv518162	chr8:102841031-102893626	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv523850	chr8:102841031-102893626	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv465749	chr8:102847202-102929460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv611819	chr8:102847202-102929460	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1264933	STK3	cis	cerebellum	SCAN
rs1264933	NCALD	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102803600-102870600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:102845400-102862000	Weak transcription	Left Ventricle	heart
3	chr8:102845600-102855000	Weak transcription	Aorta	Aorta
4	chr8:102846800-102866400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:102848000-102853400	Weak transcription	Psoas Muscle	Psoas
6	chr8:102848000-102854200	Weak transcription	HMEC	breast
7	chr8:102852000-102854600	Enhancers	GM12878-XiMat	blood
8	chr8:102852200-102854800	Weak transcription	Fetal Muscle Leg	muscle

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