Variant report

Variant	rs12596421
Chromosome Location	chr16:72518673-72518674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72504730..72507157-chr16:72516819..72518970,2	MCF-7	breast:

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1035983	1.00[AFR][1000 genomes]
rs10400973	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11075930	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11075931	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11075934	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11075937	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11075938	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11075940	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11531326	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12051317	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12051376	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12051436	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12445485	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12595984	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12596520	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12596827	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12597916	1.00[AFR][1000 genomes]
rs12598100	1.00[AFR][1000 genomes]
rs12599861	1.00[AFR][1000 genomes]
rs12600175	1.00[EUR][1000 genomes]
rs12600298	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12708932	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12921040	1.00[AFR][1000 genomes]
rs1366846	1.00[AFR][1000 genomes]
rs1366847	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1429433	0.80[ASN][1000 genomes]
rs1429434	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1437196	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1529527	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1544964	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs16970845	1.00[AFR][1000 genomes]
rs16970852	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16970879	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16970888	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16970895	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16970901	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16970906	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16970922	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16970969	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16970987	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16970998	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2043022	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2059901	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2107153	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2115625	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2115626	0.80[ASN][1000 genomes]
rs2161659	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2163067	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2358805	1.00[AFR][1000 genomes]
rs2860232	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2878752	1.00[AFR][1000 genomes]
rs28823672	1.00[AFR][1000 genomes]
rs2884552	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28876074	1.00[AFR][1000 genomes]
rs2905695	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2905696	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2914768	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2914770	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2914772	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2914773	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2914776	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2914778	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2914781	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2967238	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2967239	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4278755	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4788474	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4788627	1.00[AFR][1000 genomes]
rs4788629	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4788631	0.80[AMR][1000 genomes]
rs4788633	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4788634	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4788635	0.82[ASN][1000 genomes]
rs4788637	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58097957	1.00[AFR][1000 genomes]
rs60144415	1.00[AFR][1000 genomes]
rs60962205	0.82[AMR][1000 genomes]
rs6499575	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6499576	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6499578	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6499579	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6499581	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs714101	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs714102	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7187123	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7192128	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7194567	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7199644	0.82[ASN][1000 genomes]
rs7199653	0.82[ASN][1000 genomes]
rs7203205	0.82[ASN][1000 genomes]
rs7206485	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7405242	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8044614	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs8048815	0.89[ASN][1000 genomes]
rs8051950	0.84[AMR][1000 genomes]
rs8052426	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8053419	0.82[ASN][1000 genomes]
rs8059268	1.00[AFR][1000 genomes]
rs873899	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9302640	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9923006	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9924937	0.81[ASN][1000 genomes]
rs9927280	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9934215	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9935202	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9935250	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9936708	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9989361	1.00[EUR][1000 genomes]
rs999210	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv1063172	chr16:72342110-72537808	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv542947	chr16:72342110-72537808	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv572957	chr16:72509460-72547381	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72509800-72521400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:72515400-72527000	Weak transcription	NH-A	brain
3	chr16:72515600-72521000	Weak transcription	HSMM	muscle
4	chr16:72517600-72518800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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