Variant report

Variant	rs8053678
Chromosome Location	chr16:47938030-47938031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs1011532	0.84[AMR][1000 genomes]
rs10492847	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10521163	0.84[AMR][1000 genomes]
rs11076576	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11860828	0.84[AMR][1000 genomes]
rs12102746	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102755	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102942	0.88[AMR][1000 genomes]
rs12102967	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12103248	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12103260	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13330337	0.88[AMR][1000 genomes]
rs13330632	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13331659	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13333024	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13333199	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13335407	0.88[AMR][1000 genomes]
rs13337671	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13337810	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13338849	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339608	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486419	0.88[AMR][1000 genomes]
rs16945509	1.00[CEU][hapmap]
rs16945557	1.00[CEU][hapmap]
rs16945673	0.94[EUR][1000 genomes]
rs16945694	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945716	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16945720	0.84[AMR][1000 genomes]
rs1901903	0.88[AMR][1000 genomes]
rs2054000	0.84[AMR][1000 genomes]
rs28375672	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28409782	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28412153	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28418647	0.82[EUR][1000 genomes]
rs28434188	0.82[EUR][1000 genomes]
rs28440861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454787	0.82[EUR][1000 genomes]
rs28496502	0.82[EUR][1000 genomes]
rs28539472	0.82[EUR][1000 genomes]
rs28539843	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566036	0.94[EUR][1000 genomes]
rs28581476	0.82[EUR][1000 genomes]
rs28589989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28606368	0.94[EUR][1000 genomes]
rs28630392	0.82[EUR][1000 genomes]
rs28656465	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28679750	0.82[EUR][1000 genomes]
rs28680748	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688663	0.94[EUR][1000 genomes]
rs28690829	0.82[EUR][1000 genomes]
rs28691740	0.94[EUR][1000 genomes]
rs28712810	0.88[AMR][1000 genomes]
rs28715928	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28853924	0.82[EUR][1000 genomes]
rs28854517	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3852743	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903067	0.91[EUR][1000 genomes]
rs3950354	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4785551	0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs55898403	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58190241	0.92[AMR][1000 genomes]
rs60201061	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60943725	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61326782	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6500318	1.00[CEU][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6500376	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6500409	1.00[ASN][1000 genomes]
rs6598598	0.80[AMR][1000 genomes]
rs6598602	0.92[AMR][1000 genomes]
rs7186530	0.88[AMR][1000 genomes]
rs7186924	0.88[AMR][1000 genomes]
rs7187488	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7190225	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7192029	1.00[CEU][hapmap]
rs7193023	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193794	0.92[AMR][1000 genomes]
rs7193945	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7195074	0.84[AMR][1000 genomes]
rs7197471	0.88[AMR][1000 genomes]
rs7197882	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs7198023	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7198908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7199392	1.00[CEU][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes]
rs7202175	0.88[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap]
rs7205263	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7205736	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728884	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73536717	0.82[EUR][1000 genomes]
rs73536721	0.82[EUR][1000 genomes]
rs73536725	0.82[EUR][1000 genomes]
rs73536729	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73536749	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536752	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536754	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536758	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536770	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536785	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536798	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536913	0.88[AMR][1000 genomes]
rs73539129	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73539135	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73539141	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73539146	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7500284	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043743	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044496	0.92[AMR][1000 genomes]
rs8046175	0.84[AMR][1000 genomes]
rs8046482	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8050977	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052294	0.84[AMR][1000 genomes]
rs8054017	0.88[AMR][1000 genomes]
rs8054264	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054582	0.84[AMR][1000 genomes]
rs8054830	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055999	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8059334	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062269	0.92[AMR][1000 genomes]
rs8062495	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062847	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064036	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064193	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs876258	1.00[CEU][hapmap];0.92[AMR][1000 genomes]
rs918178	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9328600	0.88[AMR][1000 genomes]
rs9922381	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs9924657	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9924916	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926150	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926598	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9927096	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9927438	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9927787	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9931638	0.92[AMR][1000 genomes]
rs9931666	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9933191	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934384	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934668	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9937177	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938346	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938516	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939949	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940448	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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	27 gene(s)	inside rSNPs	diseases
2	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv833218	chr16:47869819-48051745	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47938000-47939600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr16:47938000-47939800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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