Variant report

Variant	rs4873147
Chromosome Location	chr8:51361714-51361715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10090266	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs10090468	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10101856	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs1017841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10808829	0.83[ASN][1000 genomes]
rs10957909	0.81[ASN][1000 genomes]
rs10957915	1.00[ASW][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957916	0.92[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11775411	0.87[CEU][hapmap];0.90[CHB][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11783146	0.93[ASN][1000 genomes]
rs11995834	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs12216754	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs12541766	0.84[CHB][hapmap]
rs12546744	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12546758	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs13248847	0.82[EUR][1000 genomes]
rs13258865	0.85[CEU][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13266691	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13274680	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1383818	1.00[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap]
rs1383820	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1471577	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1471578	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1481469	0.84[CHB][hapmap]
rs1481472	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1481475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1481476	0.84[CHB][hapmap]
rs1481477	0.84[CHB][hapmap]
rs1481482	0.84[TSI][hapmap]
rs1483643	0.84[TSI][hapmap]
rs1542615	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[TSI][hapmap]
rs192844	1.00[CHB][hapmap]
rs1967007	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1971259	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[TSI][hapmap]
rs1994031	0.84[TSI][hapmap]
rs2062038	0.92[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2068238	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs2392627	0.92[CHB][hapmap];0.94[CHD][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2392699	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs2623207	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.96[TSI][hapmap]
rs2623224	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];0.86[TSI][hapmap]
rs2625739	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs310557	0.82[EUR][1000 genomes]
rs310570	0.87[CEU][hapmap]
rs310574	0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[TSI][hapmap]
rs3919897	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs4440649	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap]
rs4538902	0.84[CHB][hapmap]
rs4577970	1.00[CHB][hapmap];0.81[GIH][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs4873149	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4873457	0.92[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873458	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[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873459	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs6473124	0.84[CHB][hapmap]
rs6473144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6983589	0.92[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7007612	0.81[EUR][1000 genomes]
rs7015139	0.92[CHB][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7817955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7826421	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs7836540	0.80[ASN][1000 genomes]
rs7839067	0.80[CHD][hapmap];0.84[MKK][hapmap];0.90[TSI][hapmap];0.82[ASN][1000 genomes]
rs7842092	0.92[CHB][hapmap];0.93[ASN][1000 genomes]
rs9298323	0.92[CHB][hapmap];0.94[CHD][hapmap];0.93[ASN][1000 genomes]
rs9643435	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs9650165	0.92[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9650166	0.92[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs996523	0.87[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831312	chr8:51239772-51422844	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916262	chr8:51322341-51437077	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 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	chr8:51360800-51363200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51361400-51362400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:51361600-51362800	Enhancers	HUES48 Cell Line	embryonic stem cell

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