Variant report

Variant	rs2914778
Chromosome Location	chr16:72586853-72586854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1035983	1.00[AFR][1000 genomes]
rs10400973	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11075930	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11075931	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11075934	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11075937	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11075938	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11075940	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11531326	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12051317	1.00[ASW][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];1.00[AFR][1000 genomes]
rs12051376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12051436	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12445485	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12595984	1.00[AFR][1000 genomes]
rs12596421	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12596520	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12597916	1.00[AFR][1000 genomes]
rs12598003	1.00[AFR][1000 genomes]
rs12598100	1.00[AFR][1000 genomes]
rs12600298	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12708932	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12921040	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1366846	1.00[AFR][1000 genomes]
rs1366847	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1429433	0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1429434	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1437196	1.00[AFR][1000 genomes]
rs1529527	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1544964	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs16970845	1.00[AFR][1000 genomes]
rs16970852	1.00[AFR][1000 genomes]
rs16970879	1.00[AFR][1000 genomes]
rs16970888	1.00[AFR][1000 genomes]
rs16970895	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16970901	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16970906	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16970922	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs16970969	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16970987	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16970998	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16971287	1.00[AFR][1000 genomes]
rs16971292	1.00[AFR][1000 genomes]
rs2040939	0.83[AFR][1000 genomes]
rs2040940	1.00[AFR][1000 genomes]
rs2043022	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2059901	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2107153	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2115625	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2115626	0.84[ASN][1000 genomes]
rs2161659	1.00[AFR][1000 genomes]
rs2163067	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2358805	1.00[AFR][1000 genomes]
rs2860232	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28823672	1.00[AFR][1000 genomes]
rs2884552	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28876074	1.00[AFR][1000 genomes]
rs2905695	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2905696	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2914768	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2914770	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2914772	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2914773	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2914776	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2914781	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs292913	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs292914	1.00[AFR][1000 genomes]
rs292915	1.00[AFR][1000 genomes]
rs292919	1.00[AFR][1000 genomes]
rs292920	1.00[AFR][1000 genomes]
rs292921	1.00[AFR][1000 genomes]
rs292926	1.00[AFR][1000 genomes]
rs292930	1.00[AFR][1000 genomes]
rs292932	1.00[AFR][1000 genomes]
rs292934	1.00[AFR][1000 genomes]
rs292935	1.00[AFR][1000 genomes]
rs292939	1.00[AFR][1000 genomes]
rs292943	1.00[AFR][1000 genomes]
rs292945	1.00[AFR][1000 genomes]
rs2967238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2967239	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4238966	1.00[AFR][1000 genomes]
rs4278755	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4788474	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4788627	1.00[AFR][1000 genomes]
rs4788629	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4788633	1.00[AFR][1000 genomes]
rs4788634	1.00[AFR][1000 genomes]
rs4788637	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4788655	1.00[AFR][1000 genomes]
rs58097957	1.00[AFR][1000 genomes]
rs59254438	1.00[AFR][1000 genomes]
rs60144415	1.00[AFR][1000 genomes]
rs6499575	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6499576	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6499578	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6499579	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6499581	1.00[ASW][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs714101	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs714102	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7187123	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7192128	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7194567	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7199644	0.86[ASN][1000 genomes]
rs7199653	0.86[ASN][1000 genomes]
rs7203205	0.86[ASN][1000 genomes]
rs7206485	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7405242	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8044614	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs8048815	0.93[ASN][1000 genomes]
rs8051950	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8052426	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8053419	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8059268	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs873899	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9302640	0.88[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs982799	1.00[AFR][1000 genomes]
rs9923006	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9924937	0.85[ASN][1000 genomes]
rs9927280	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9934215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9935202	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9935250	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9936708	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs999210	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1067525	chr16:72342110-72602796	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv542948	chr16:72342110-72602796	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1055807	chr16:72418417-72614308	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv523524	chr16:72464460-72635674	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1055142	chr16:72473520-72627783	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv542950	chr16:72473520-72627783	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	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
12	nsv1064928	chr16:72509626-72627783	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	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
14	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
15	nsv518234	chr16:72544447-72635674	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv1064027	chr16:72559417-72656702	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	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
18	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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72545000-72588800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr16:72571600-72589000	Weak transcription	Thymus	Thymus
3	chr16:72571800-72589600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:72584000-72594600	Weak transcription	Primary B cells from cord blood	blood

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