Variant report

Variant	rs8053419
Chromosome Location	chr16:72693014-72693015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72691145..72694013-chr16:72696469..72698836,2	MCF-7	breast:
2	chr16:72691539..72694756-chr16:72697341..72699640,3	K562	blood:

Variant related genes	Relation type
ENSG00000261008	Chromatin interaction
ENSG00000259768	Chromatin interaction

Extended variants
information (count: 165 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs1035983	0.88[ASN][1000 genomes]
rs1035984	0.87[ASN][1000 genomes]
rs10400973	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10492826	0.81[ASN][1000 genomes]
rs11075930	0.82[ASN][1000 genomes]
rs11075934	0.81[ASN][1000 genomes]
rs11075938	0.91[ASN][1000 genomes]
rs11075940	0.91[ASN][1000 genomes]
rs11861672	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs12051226	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12051305	0.81[ASN][1000 genomes]
rs12051436	0.85[ASN][1000 genomes]
rs12103150	0.85[YRI][hapmap]
rs12103361	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs12445485	0.85[ASN][1000 genomes]
rs12595874	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs12596421	0.82[ASN][1000 genomes]
rs12596520	0.82[ASN][1000 genomes]
rs12598003	0.81[ASN][1000 genomes]
rs12598048	0.81[ASN][1000 genomes]
rs12599442	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs12600293	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs12600298	0.82[ASN][1000 genomes]
rs12708932	0.91[ASN][1000 genomes]
rs12921040	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12924860	0.90[AMR][1000 genomes]
rs13331987	0.83[AFR][1000 genomes]
rs13332877	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs1366846	0.87[ASN][1000 genomes]
rs1366847	0.91[ASN][1000 genomes]
rs1429431	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1429432	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1429433	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1429434	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1529527	0.83[ASN][1000 genomes]
rs1544964	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16970969	0.81[ASN][1000 genomes]
rs16970987	0.82[ASN][1000 genomes]
rs16970998	0.82[ASN][1000 genomes]
rs16971145	0.86[YRI][hapmap]
rs16971306	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs16971312	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs16971314	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs16971315	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs16971318	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs16971321	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs1990096	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs2040940	0.81[ASN][1000 genomes]
rs2043022	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2107153	0.81[ASN][1000 genomes]
rs2115625	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2115626	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2163067	0.85[ASN][1000 genomes]
rs2229286	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs2266932	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2266935	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2266936	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs2266938	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs2266939	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs2266941	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2266942	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs2266944	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs2358805	0.88[ASN][1000 genomes]
rs2358811	0.81[ASN][1000 genomes]
rs28393137	0.81[AFR][1000 genomes]
rs28464989	0.85[AFR][1000 genomes]
rs28828717	0.85[AFR][1000 genomes]
rs2884552	0.85[ASN][1000 genomes]
rs2905695	0.83[ASN][1000 genomes]
rs2905696	0.83[ASN][1000 genomes]
rs2914768	0.86[ASN][1000 genomes]
rs2914770	0.86[ASN][1000 genomes]
rs2914772	0.86[ASN][1000 genomes]
rs2914773	0.86[ASN][1000 genomes]
rs2914776	0.82[ASN][1000 genomes]
rs2914778	0.86[ASN][1000 genomes]
rs2914781	0.82[ASN][1000 genomes]
rs292913	0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs292914	0.86[ASN][1000 genomes]
rs292915	0.86[ASN][1000 genomes]
rs292916	0.86[ASN][1000 genomes]
rs292917	0.86[ASN][1000 genomes]
rs292918	0.86[ASN][1000 genomes]
rs292919	0.86[ASN][1000 genomes]
rs292920	0.86[ASN][1000 genomes]
rs292921	0.86[ASN][1000 genomes]
rs292922	0.86[ASN][1000 genomes]
rs292923	0.86[ASN][1000 genomes]
rs292924	0.86[ASN][1000 genomes]
rs292925	0.86[ASN][1000 genomes]
rs292926	0.86[ASN][1000 genomes]
rs292927	0.86[ASN][1000 genomes]
rs292928	0.86[ASN][1000 genomes]
rs292929	0.85[ASN][1000 genomes]
rs292930	0.86[ASN][1000 genomes]
rs292931	0.86[ASN][1000 genomes]
rs292932	0.86[ASN][1000 genomes]
rs292933	0.86[ASN][1000 genomes]
rs292934	0.87[ASN][1000 genomes]
rs292935	0.86[ASN][1000 genomes]
rs292937	0.86[ASN][1000 genomes]
rs292938	0.86[ASN][1000 genomes]
rs292939	0.82[ASN][1000 genomes]
rs292940	0.85[ASN][1000 genomes]
rs292941	0.85[ASN][1000 genomes]
rs292942	0.81[ASN][1000 genomes]
rs292943	0.81[ASN][1000 genomes]
rs2967238	0.83[ASN][1000 genomes]
rs2967239	0.86[ASN][1000 genomes]
rs3812983	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs4278755	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4788474	0.91[ASN][1000 genomes]
rs4788655	0.81[ASN][1000 genomes]
rs4788663	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs6499575	0.83[ASN][1000 genomes]
rs6499576	0.83[ASN][1000 genomes]
rs6499578	0.96[ASN][1000 genomes]
rs6499579	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6499581	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs714101	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs714102	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7187123	0.97[ASN][1000 genomes]
rs7187768	0.90[YRI][hapmap]
rs7192128	0.85[ASN][1000 genomes]
rs7194567	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7195234	0.92[YRI][hapmap]
rs7198782	1.00[EUR][1000 genomes]
rs7199594	0.81[AFR][1000 genomes]
rs7199644	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7199653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7203205	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7203232	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs73584955	0.81[AFR][1000 genomes]
rs74028108	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7405242	0.83[ASN][1000 genomes]
rs8043976	0.85[YRI][hapmap]
rs8044614	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs8048815	0.84[ASN][1000 genomes]
rs8051420	0.86[YRI][hapmap]
rs8059268	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8061838	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs9302640	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs982799	0.87[ASN][1000 genomes]
rs9923006	0.97[ASN][1000 genomes]
rs9924937	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9926706	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs9927280	0.89[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs9929006	0.86[YRI][hapmap]
rs9933433	0.89[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes]
rs9934215	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9935202	0.91[ASN][1000 genomes]
rs9935250	0.91[ASN][1000 genomes]
rs9936708	0.89[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs9938038	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs999210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1065173	chr16:72509626-72693970	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv542951	chr16:72509626-72693970	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	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
8	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
9	esv1818026	chr16:72633305-72704680	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72691600-72693600	Enhancers	Dnd41	blood
2	chr16:72691600-72693800	Enhancers	Primary B cells from peripheral blood	blood
3	chr16:72691800-72693600	Enhancers	Primary B cells from cord blood	blood
4	chr16:72692000-72693600	Enhancers	Thymus	Thymus
5	chr16:72692000-72693800	Enhancers	Fetal Thymus	thymus
6	chr16:72692200-72693400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr16:72692200-72697800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:72692600-72697600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr16:72692800-72693800	Flanking Active TSS	GM12878-XiMat	blood

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