Variant report

Variant	rs292945
Chromosome Location	chr16:72793084-72793085
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72792437..72793961-chr16:72794286..72797023,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs1035983	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1035984	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10400973	0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10492826	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11075938	0.83[AFR][1000 genomes]
rs11075940	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12051226	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12051305	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12051376	1.00[AFR][1000 genomes]
rs12051436	1.00[AFR][1000 genomes]
rs12103361	1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12445485	1.00[AFR][1000 genomes]
rs12595874	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12596196	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12597202	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12597703	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12598003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12598048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12598858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12599442	0.94[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12599589	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12600293	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12708932	1.00[AFR][1000 genomes]
rs12921040	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13332877	1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13333025	0.85[AMR][1000 genomes]
rs1366846	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1366847	1.00[AFR][1000 genomes]
rs1429431	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1429432	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1429433	0.89[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs1429434	0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1529527	1.00[AFR][1000 genomes]
rs1544964	0.89[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16971279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971281	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16971287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16971288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16971290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16971292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971306	0.94[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16971312	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971314	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16971315	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16971318	1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16971321	1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16971324	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs16971325	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1859593	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990096	1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2040939	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2040940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2043022	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2107153	1.00[AFR][1000 genomes]
rs2115625	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2163067	1.00[AFR][1000 genomes]
rs2229286	0.94[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2229290	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2266932	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2266934	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2266935	0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2266936	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2266938	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2266939	0.94[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2266941	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2266942	0.94[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2266944	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2358805	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2358811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2860232	1.00[AFR][1000 genomes]
rs2884552	1.00[AFR][1000 genomes]
rs2905695	1.00[AFR][1000 genomes]
rs2905696	1.00[AFR][1000 genomes]
rs2914768	1.00[AFR][1000 genomes]
rs2914770	1.00[AFR][1000 genomes]
rs2914772	1.00[AFR][1000 genomes]
rs2914773	1.00[AFR][1000 genomes]
rs2914778	1.00[AFR][1000 genomes]
rs2914781	1.00[AFR][1000 genomes]
rs292913	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292914	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292915	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292916	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292917	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292918	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292919	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292920	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292921	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs292922	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292923	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292924	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292925	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292926	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292927	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292928	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292929	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs292930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs292935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs292941	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs292942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs292947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967238	1.00[AFR][1000 genomes]
rs2967239	1.00[AFR][1000 genomes]
rs3812983	0.94[CHB][hapmap];0.93[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4238966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4278755	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4788474	1.00[AFR][1000 genomes]
rs4788479	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4788655	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4788657	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4788663	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4788664	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4788666	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4788667	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4788669	0.88[AMR][1000 genomes]
rs59254438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60974482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6416744	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6499575	1.00[AFR][1000 genomes]
rs6499576	1.00[AFR][1000 genomes]
rs6499578	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6499579	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6499581	0.89[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6499591	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6499592	0.88[AMR][1000 genomes]
rs6499593	0.89[AMR][1000 genomes]
rs714101	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs714102	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7187123	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7192128	1.00[AFR][1000 genomes]
rs7194567	1.00[AFR][1000 genomes]
rs7198782	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7203205	0.81[ASN][1000 genomes]
rs7203232	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7206490	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs740176	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs74028108	0.98[ASN][1000 genomes]
rs8044614	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8053419	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs8059268	0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes]
rs9302640	0.88[CHB][hapmap];0.87[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs982799	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9921081	0.85[AMR][1000 genomes]
rs9923006	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9927280	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9933433	1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9934215	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9935202	1.00[AFR][1000 genomes]
rs9935250	1.00[AFR][1000 genomes]
rs9936708	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs999210	0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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	chr16:72783800-72810600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:72785200-72797800	Weak transcription	Fetal Heart	heart
3	chr16:72786200-72797600	Weak transcription	GM12878-XiMat	blood
4	chr16:72791400-72798200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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