Variant report

Variant	rs8061838
Chromosome Location	chr16:72707056-72707057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr16:72706986-72707457	K562	blood:	n/a	n/a
2	KAP1	chr16:72706956-72707545	HEK293	kidney:	n/a	n/a
3	TRIM28	chr16:72707015-72707362	K562	blood:	n/a	n/a
4	TRIM28	chr16:72706993-72707461	K562	blood:	n/a	n/a
5	KAP1	chr16:72707002-72707468	U2OS	brain:	n/a	n/a
6	KAP1	chr16:72706908-72707813	K562	blood:	n/a	n/a
7	SETDB1	chr16:72706891-72707635	U2OS	brain:	n/a	n/a
8	CBX3	chr16:72706975-72707481	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
RNU7-90P	TF binding region

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs11861408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11861672	0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11863759	1.00[EUR][1000 genomes]
rs11865496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11866292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12103150	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13329845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13331987	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13332257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13336634	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338662	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1429431	0.85[AFR][1000 genomes]
rs1429432	0.84[AFR][1000 genomes]
rs1429433	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs16970996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971145	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971240	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971367	1.00[EUR][1000 genomes]
rs16971373	1.00[EUR][1000 genomes]
rs2107154	1.00[AMR][1000 genomes]
rs2115626	0.87[AFR][1000 genomes]
rs2163066	0.80[AFR][1000 genomes]
rs2189339	1.00[AMR][1000 genomes]
rs2336436	1.00[AMR][1000 genomes]
rs28393137	0.83[AFR][1000 genomes]
rs2840012	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28459407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28464989	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28514442	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28530505	1.00[EUR][1000 genomes]
rs28568963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28569075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28616025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28693857	1.00[EUR][1000 genomes]
rs28828717	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28847294	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4255793	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4624185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55777547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56991537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58363387	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58819288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61192283	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61451052	0.80[AFR][1000 genomes]
rs6499589	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187768	0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7192337	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195234	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7197918	1.00[EUR][1000 genomes]
rs7199507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199594	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199644	0.82[AFR][1000 genomes]
rs7199653	0.82[AFR][1000 genomes]
rs7202598	1.00[EUR][1000 genomes]
rs7203232	0.86[AFR][1000 genomes]
rs7203819	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583171	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583174	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583188	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583198	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584928	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584931	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584955	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590703	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590712	1.00[EUR][1000 genomes]
rs73590718	1.00[EUR][1000 genomes]
rs73590724	1.00[EUR][1000 genomes]
rs73599411	1.00[AMR][1000 genomes]
rs73601423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601436	1.00[AMR][1000 genomes]
rs8043976	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045813	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8048860	1.00[AMR][1000 genomes]
rs8050489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051123	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051420	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053419	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs8053566	0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053837	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302642	1.00[AMR][1000 genomes]
rs9923235	1.00[AMR][1000 genomes]
rs9926706	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9928673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929006	0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933062	1.00[AMR][1000 genomes]
rs9933331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9934152	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935400	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935518	1.00[EUR][1000 genomes]
rs9935826	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9937525	0.85[AMR][1000 genomes]
rs9938038	0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs999210	0.96[YRI][hapmap];0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv530712	chr16:72499171-72744114	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1059111	chr16:72647569-72751907	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv1822094	chr16:72694760-72787961	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv572958	chr16:72696112-72778617	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr16:72705800-72707200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr16:72706000-72708200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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