Variant report

Variant	rs1148497
Chromosome Location	chr8:102856517-102856518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1144545	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1148496	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1148498	0.87[CEU][hapmap];0.93[CHB][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1148499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148501	0.90[ASN][1000 genomes]
rs1264865	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1264866	0.87[CEU][hapmap];0.94[CHB][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1264930	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1264931	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs1264932	0.91[ASN][1000 genomes]
rs1264933	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1264948	0.84[EUR][1000 genomes]
rs1264952	0.89[ASN][1000 genomes]
rs1264953	0.84[ASN][1000 genomes]
rs1264954	0.90[ASN][1000 genomes]
rs1271946	0.84[EUR][1000 genomes]
rs1272384	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1313944	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2155938	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2155939	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[ASN][1000 genomes]
rs2155940	0.80[CEU][hapmap];0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs2155941	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs2155942	0.84[CEU][hapmap]
rs2226724	0.87[CEU][hapmap]
rs2509895	0.88[ASN][1000 genomes]
rs28623673	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs472471	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs472638	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs472963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473498	0.84[CEU][hapmap]
rs477236	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs478092	0.87[CEU][hapmap]
rs478189	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs478875	0.87[CEU][hapmap];0.93[CHB][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs478896	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs478917	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs479041	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs479742	0.83[CEU][hapmap]
rs480570	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs480955	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs481545	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs482023	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs484657	0.87[CEU][hapmap]
rs485252	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs485263	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs485363	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs486196	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs487863	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs487987	0.83[EUR][1000 genomes]
rs488034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs489973	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs490032	0.87[CEU][hapmap]
rs490096	0.87[CEU][hapmap]
rs490125	0.83[CEU][hapmap]
rs494352	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs495636	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs497905	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs502334	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs508386	0.84[CEU][hapmap]
rs510524	0.83[CEU][hapmap]
rs512202	0.87[CEU][hapmap]
rs513159	0.91[CEU][hapmap]
rs513472	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs514057	0.84[EUR][1000 genomes]
rs517868	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs519197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526533	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs529684	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs531624	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs534512	0.87[CEU][hapmap];0.94[CHB][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs537941	0.87[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs539663	0.87[CEU][hapmap];0.94[CHB][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs540459	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs542208	0.81[EUR][1000 genomes]
rs544821	0.87[CEU][hapmap]
rs544928	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs549281	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs550281	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs551295	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs554036	0.91[CEU][hapmap];0.94[CHB][hapmap]
rs554945	0.87[CEU][hapmap]
rs558772	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs561000	0.84[CEU][hapmap]
rs561603	0.84[EUR][1000 genomes]
rs562037	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs563463	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs563493	0.87[CEU][hapmap]
rs564718	0.87[CEU][hapmap]
rs566264	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs566315	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs566392	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs566501	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs568194	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs569015	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs569787	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs572692	0.87[CEU][hapmap]
rs576173	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs577756	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs578603	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67887846	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6984260	0.87[CEU][hapmap]
rs6991592	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[ASN][1000 genomes]
rs7813132	0.86[CEU][hapmap]
rs7827941	0.87[CEU][hapmap]
rs7828175	0.80[CEU][hapmap]
rs7829693	0.81[EUR][1000 genomes]
rs7840760	0.80[CEU][hapmap]
rs9297313	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[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	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

No data

Chromatin state (count:7 , 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	chr8:102846800-102866400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:102854800-102866200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:102855000-102856800	Weak transcription	Psoas Muscle	Psoas
6	chr8:102855200-102862400	Weak transcription	Aorta	Aorta
7	chr8:102855600-102857600	Enhancers	GM12878-XiMat	blood

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