Variant report

Variant	rs28539843
Chromosome Location	chr16:47939695-47939696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 210 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:207)

rs_ID	r²[population]
rs10492847	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11076576	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200967	0.90[AMR][1000 genomes]
rs12102746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102755	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102967	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12103248	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12103260	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13330632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13331659	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13331748	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13333024	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13333199	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13334408	0.90[AMR][1000 genomes]
rs13336200	0.95[AMR][1000 genomes]
rs13337281	0.95[AMR][1000 genomes]
rs13337671	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13337810	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13337972	0.90[AMR][1000 genomes]
rs13338447	0.95[AMR][1000 genomes]
rs13338849	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339608	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945474	0.85[AMR][1000 genomes]
rs16945509	0.90[AMR][1000 genomes]
rs16945543	0.85[AMR][1000 genomes]
rs16945553	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16945557	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16945594	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16945617	0.90[AMR][1000 genomes]
rs16945621	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16945624	0.90[AMR][1000 genomes]
rs16945629	0.95[AMR][1000 genomes]
rs16945641	0.95[AMR][1000 genomes]
rs16945644	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs16945648	0.95[AMR][1000 genomes]
rs16945650	0.95[AMR][1000 genomes]
rs16945652	0.95[AMR][1000 genomes]
rs16945661	0.90[AMR][1000 genomes]
rs16945662	0.95[AMR][1000 genomes]
rs16945673	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16945694	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945716	1.00[ASN][1000 genomes]
rs2046531	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2101373	0.90[AMR][1000 genomes]
rs28375672	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28385551	0.90[AMR][1000 genomes]
rs28409782	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28412153	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28418647	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28434188	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28440861	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28448361	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28454787	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28496502	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28497443	0.90[AMR][1000 genomes]
rs28539472	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28542319	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28566036	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28577066	0.90[AMR][1000 genomes]
rs28581476	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28589989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28590410	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28606368	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28630392	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28656465	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28679750	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28680748	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688420	0.90[AMR][1000 genomes]
rs28688663	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28690829	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28691740	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28715928	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28754618	0.95[AMR][1000 genomes]
rs28853924	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28854517	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28865322	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3852743	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903067	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3950354	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4271615	0.95[AMR][1000 genomes]
rs4785551	1.00[ASN][1000 genomes]
rs55898403	1.00[ASN][1000 genomes]
rs56687111	0.90[AMR][1000 genomes]
rs57930434	0.95[AMR][1000 genomes]
rs58550976	0.90[AMR][1000 genomes]
rs60049376	0.95[AMR][1000 genomes]
rs60201061	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60943725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61115457	0.95[AMR][1000 genomes]
rs61326782	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61465994	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs6500318	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6500376	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6500409	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6598613	0.90[AMR][1000 genomes]
rs7184358	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7185753	0.90[AMR][1000 genomes]
rs7186864	0.90[AMR][1000 genomes]
rs7187134	0.95[AMR][1000 genomes]
rs7187393	0.90[AMR][1000 genomes]
rs7187488	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7189446	0.90[AMR][1000 genomes]
rs7190225	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7190399	0.90[AMR][1000 genomes]
rs7193023	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193945	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7198023	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7198908	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7200406	0.90[AMR][1000 genomes]
rs7201764	0.90[AMR][1000 genomes]
rs7202145	0.90[AMR][1000 genomes]
rs7202457	0.90[AMR][1000 genomes]
rs7202612	0.90[AMR][1000 genomes]
rs7203019	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7205263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7205736	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728884	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73536704	0.95[AMR][1000 genomes]
rs73536711	0.95[AMR][1000 genomes]
rs73536717	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73536721	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73536725	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73536729	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73536749	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536752	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536754	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536758	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536770	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536779	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536798	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536906	0.90[AMR][1000 genomes]
rs73536920	0.85[AMR][1000 genomes]
rs73536936	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73536939	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73539129	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73539135	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73539141	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73539146	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544253	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73544267	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73544271	0.85[AMR][1000 genomes]
rs73544281	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73544284	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73546131	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs73546132	0.95[AMR][1000 genomes]
rs73546138	0.95[AMR][1000 genomes]
rs73546141	0.95[AMR][1000 genomes]
rs73546143	0.95[AMR][1000 genomes]
rs73552163	0.95[AMR][1000 genomes]
rs73552167	0.95[AMR][1000 genomes]
rs7500284	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043743	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8046259	0.90[AMR][1000 genomes]
rs8046482	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8047342	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8048233	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8048279	0.90[AMR][1000 genomes]
rs8049111	0.90[AMR][1000 genomes]
rs8050977	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053042	0.95[AMR][1000 genomes]
rs8053678	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054264	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055624	0.95[AMR][1000 genomes]
rs8055695	0.95[AMR][1000 genomes]
rs8055999	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8059334	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8061062	0.90[AMR][1000 genomes]
rs8061556	0.90[AMR][1000 genomes]
rs8061656	0.90[AMR][1000 genomes]
rs8062495	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062847	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064036	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064193	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs918178	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9746012	0.90[AMR][1000 genomes]
rs9746020	0.90[AMR][1000 genomes]
rs9746028	0.90[AMR][1000 genomes]
rs9923591	0.90[AMR][1000 genomes]
rs9924657	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9924916	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926150	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926598	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926971	0.95[AMR][1000 genomes]
rs9927096	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9927438	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9927787	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9927829	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9929392	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9929794	0.90[AMR][1000 genomes]
rs9930026	0.90[AMR][1000 genomes]
rs9931666	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9932128	0.95[AMR][1000 genomes]
rs9933191	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934384	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934478	0.90[AMR][1000 genomes]
rs9934668	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9935542	0.90[AMR][1000 genomes]
rs9936580	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9937177	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937514	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938516	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939949	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940448	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940610	0.95[AMR][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47938000-47939800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:47938400-47940800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:47938400-47940800	Enhancers	HMEC	breast
4	chr16:47938400-47940800	Enhancers	NHEK	skin
5	chr16:47938600-47940600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:47938600-47941400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:47938800-47940000	Enhancers	Placenta	Placenta
8	chr16:47939200-47940800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:47939400-47940000	Enhancers	A549	lung
10	chr16:47939400-47940000	Enhancers	NH-A	brain
11	chr16:47939600-47940000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:47939600-47940000	Enhancers	Osteobl	bone

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