Variant report

Variant	rs72721517
Chromosome Location	chr1:186530523-186530524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186528747..186531209-chr1:186542741..186544278,2	MCF-7	breast:
2	chr1:186527389..186529726-chr1:186530392..186533046,2	K562	blood:
3	chr1:186530065..186531644-chr1:186533364..186535503,2	MCF-7	breast:

Extended variants
information (count: 188 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:183)

rs_ID	r²[population]
rs10489392	0.98[EUR][1000 genomes]
rs10489393	0.98[EUR][1000 genomes]
rs10798041	0.94[EUR][1000 genomes]
rs10798042	0.94[EUR][1000 genomes]
rs10798044	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10798045	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10798046	0.98[EUR][1000 genomes]
rs10798047	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798048	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798049	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911860	0.83[EUR][1000 genomes]
rs10911861	0.93[EUR][1000 genomes]
rs10911863	0.94[EUR][1000 genomes]
rs10911864	0.93[EUR][1000 genomes]
rs10911866	0.94[EUR][1000 genomes]
rs10911867	0.94[EUR][1000 genomes]
rs10911868	0.94[EUR][1000 genomes]
rs10911869	0.94[EUR][1000 genomes]
rs10911870	0.95[EUR][1000 genomes]
rs10911871	0.98[EUR][1000 genomes]
rs10911872	0.98[EUR][1000 genomes]
rs10911873	0.95[EUR][1000 genomes]
rs10911874	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10911879	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911880	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10911882	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911884	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911885	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911886	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911887	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911889	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911903	0.85[ASN][1000 genomes]
rs10911909	0.85[ASN][1000 genomes]
rs11484607	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11487358	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11576701	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11578436	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11578514	0.96[EUR][1000 genomes]
rs11578546	0.98[EUR][1000 genomes]
rs11584118	0.85[ASN][1000 genomes]
rs11585033	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585801	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589235	0.94[EUR][1000 genomes]
rs11589637	0.94[EUR][1000 genomes]
rs11590457	0.94[EUR][1000 genomes]
rs12057695	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061722	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062166	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12062679	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062743	0.96[EUR][1000 genomes]
rs12071770	0.96[EUR][1000 genomes]
rs12072014	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12076100	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12077211	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078657	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12080265	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12081060	0.96[EUR][1000 genomes]
rs12085604	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12085848	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085968	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12089016	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12089049	0.85[ASN][1000 genomes]
rs12089127	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12089415	0.96[EUR][1000 genomes]
rs12092372	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12094398	0.95[EUR][1000 genomes]
rs12096518	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12097208	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12401657	0.95[EUR][1000 genomes]
rs12402484	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12402766	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402797	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403185	0.92[ASN][1000 genomes]
rs12403321	0.91[EUR][1000 genomes]
rs12404135	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12404145	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12405141	0.92[ASN][1000 genomes]
rs12405541	0.85[ASN][1000 genomes]
rs12405919	0.92[ASN][1000 genomes]
rs12406189	0.94[EUR][1000 genomes]
rs12406209	0.94[EUR][1000 genomes]
rs12407957	0.94[EUR][1000 genomes]
rs12408222	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408912	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409263	0.96[EUR][1000 genomes]
rs12410237	0.94[EUR][1000 genomes]
rs12410549	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319120	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1569879	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16825452	0.95[EUR][1000 genomes]
rs16825469	0.96[EUR][1000 genomes]
rs17520924	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882926	0.93[EUR][1000 genomes]
rs1929095	0.93[EUR][1000 genomes]
rs1997977	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038225	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066826	0.85[ASN][1000 genomes]
rs2207728	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2383385	0.96[EUR][1000 genomes]
rs2383386	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2383504	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2383505	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2383511	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2383516	0.85[ASN][1000 genomes]
rs2891247	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34869216	0.94[EUR][1000 genomes]
rs34898353	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34975495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35066734	0.94[EUR][1000 genomes]
rs35999012	0.96[EUR][1000 genomes]
rs3851884	0.96[EUR][1000 genomes]
rs3851886	0.96[EUR][1000 genomes]
rs3863719	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3934200	0.96[EUR][1000 genomes]
rs4648250	0.81[ASN][1000 genomes]
rs4648276	0.85[ASN][1000 genomes]
rs4648306	0.85[ASN][1000 genomes]
rs55812689	0.95[EUR][1000 genomes]
rs56767915	0.93[EUR][1000 genomes]
rs57390268	0.96[EUR][1000 genomes]
rs57468285	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58982724	0.95[EUR][1000 genomes]
rs59516785	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59665821	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60682317	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60982539	0.91[EUR][1000 genomes]
rs61101909	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61532952	0.85[ASN][1000 genomes]
rs6425031	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6425032	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6425033	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66494422	0.85[ASN][1000 genomes]
rs6669319	0.90[EUR][1000 genomes]
rs6671561	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6672638	0.91[EUR][1000 genomes]
rs6677885	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6679923	0.94[EUR][1000 genomes]
rs66850891	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687784	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6690318	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692629	0.93[EUR][1000 genomes]
rs6698923	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67143595	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67203540	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67362011	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67396678	0.96[EUR][1000 genomes]
rs67488110	0.96[EUR][1000 genomes]
rs67588474	0.98[EUR][1000 genomes]
rs67607835	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67744944	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67777998	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67804662	0.85[ASN][1000 genomes]
rs68096880	0.85[ASN][1000 genomes]
rs68164021	0.96[EUR][1000 genomes]
rs72719487	0.96[EUR][1000 genomes]
rs72719500	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72719501	0.96[EUR][1000 genomes]
rs72721521	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721544	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048464	0.95[EUR][1000 genomes]
rs73048477	0.98[EUR][1000 genomes]
rs73052465	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512750	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521968	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7522862	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523747	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7525586	0.96[EUR][1000 genomes]
rs7526069	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7534971	0.96[EUR][1000 genomes]
rs7538407	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544457	0.96[EUR][1000 genomes]
rs7545438	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548600	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550585	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7550953	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7555973	0.96[EUR][1000 genomes]
rs765799	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs964571	0.85[ASN][1000 genomes]
rs9659276	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783017	0.85[ASN][1000 genomes]
rs9804178	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr1:186529200-186531600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:186529400-186530600	Enhancers	NHEK	skin
3	chr1:186529800-186530600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:186530400-186531400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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