Variant report

Variant	rs6994669
Chromosome Location	chr8:3566533-3566534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10089138	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10095166	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104318	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10105577	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105599	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110793	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11775478	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11775483	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11778221	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11783239	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11993897	1.00[MEX][hapmap]
rs12542452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250917	1.00[CHB][hapmap]
rs13267014	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268132	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13275720	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481706	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1482197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1482198	1.00[CEU][hapmap]
rs1482199	1.00[CEU][hapmap]
rs1482200	1.00[CEU][hapmap]
rs17066731	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17067079	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17067268	1.00[CHB][hapmap]
rs1905025	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2251848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs2251850	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs2251857	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs2449207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs2449208	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs2469377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs2469378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2623581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2623582	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2623584	1.00[CEU][hapmap]
rs2623585	1.00[CEU][hapmap]
rs2623587	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.95[YRI][hapmap]
rs2623592	1.00[CHB][hapmap]
rs2623594	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2623595	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2623597	0.85[CEU][hapmap]
rs2623704	1.00[CHB][hapmap]
rs2623705	1.00[CHB][hapmap]
rs2623706	1.00[CHB][hapmap]
rs2623709	1.00[CHB][hapmap]
rs2623711	1.00[CHB][hapmap]
rs2623712	1.00[CHB][hapmap]
rs2624058	0.82[CEU][hapmap]
rs2624059	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2624067	0.82[CEU][hapmap]
rs2624068	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs2624070	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2624092	1.00[CEU][hapmap]
rs2624094	1.00[CEU][hapmap]
rs2624105	1.00[CEU][hapmap]
rs2624108	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs2624111	1.00[CEU][hapmap]
rs2720824	1.00[CHB][hapmap]
rs2720830	1.00[CHB][hapmap]
rs2720831	1.00[CHB][hapmap]
rs2720834	1.00[CHB][hapmap]
rs2720836	1.00[CHB][hapmap]
rs4472537	1.00[CHB][hapmap]
rs4503122	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4875776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5003043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes]
rs6980585	1.00[MEX][hapmap]
rs6981596	0.89[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];0.95[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981921	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983298	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6983391	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6985082	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6994482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994494	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes]
rs7825205	1.00[CHB][hapmap]
rs7826851	1.00[CHB][hapmap]
rs878488	1.00[CEU][hapmap]
rs900219	1.00[CEU][hapmap]
rs900222	1.00[CEU][hapmap]
rs900223	1.00[CEU][hapmap]
rs900224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9285037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931204	1.00[CEU][hapmap]
rs9657366	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9792136	1.00[JPT][hapmap]
rs9942728	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9987389	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025209	chr8:3067655-3754882	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1026998	chr8:3102679-3593264	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034076	chr8:3168033-3989947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv539351	chr8:3168033-3989947	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017164	chr8:3174168-4026811	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv539352	chr8:3174168-4026811	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1018218	chr8:3180287-4089011	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1028926	chr8:3318340-3667389	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv539353	chr8:3318340-3667389	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv831211	chr8:3504660-3660294	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1017752	chr8:3530971-3754478	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv539355	chr8:3530971-3754478	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1025204	chr8:3542586-3889592	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv539356	chr8:3542586-3889592	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv1022343	chr8:3553701-3578650	Enhancers Weak transcription Bivalent/Poised TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
16	nsv949269	chr8:3556145-4246903	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
17	nsv498034	chr8:3559289-3846288	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv889903	chr8:3560760-3575929	Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
19	esv2756807	chr8:3564244-3566615	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
20	esv2759584	chr8:3564244-3566615	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3563200-3569400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3566200-3567000	Enhancers	Fetal Muscle Leg	muscle

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