Variant report

Variant	rs28715928
Chromosome Location	chr16:47889757-47889758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 263 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:257)

rs_ID	r²[population]
rs1011532	0.84[EUR][1000 genomes]
rs10492847	1.00[EUR][1000 genomes]
rs10521162	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10521163	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11076576	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11860828	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11862281	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1200967	0.84[EUR][1000 genomes]
rs12102746	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12102755	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12102942	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12102967	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12103248	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12103260	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13330337	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13330510	0.84[EUR][1000 genomes]
rs13330632	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13331659	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13331748	0.84[EUR][1000 genomes]
rs13333024	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13333199	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13334408	0.84[EUR][1000 genomes]
rs13335407	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13336200	0.84[EUR][1000 genomes]
rs13337281	0.84[EUR][1000 genomes]
rs13337671	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13337810	1.00[EUR][1000 genomes]
rs13337972	0.84[EUR][1000 genomes]
rs13338447	0.84[EUR][1000 genomes]
rs13338849	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13339608	0.94[EUR][1000 genomes]
rs1486419	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16942513	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16945438	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16945443	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16945460	0.84[EUR][1000 genomes]
rs16945474	0.84[EUR][1000 genomes]
rs16945509	0.84[EUR][1000 genomes]
rs16945543	0.84[EUR][1000 genomes]
rs16945553	0.81[EUR][1000 genomes]
rs16945557	0.84[EUR][1000 genomes]
rs16945594	0.84[EUR][1000 genomes]
rs16945617	0.84[EUR][1000 genomes]
rs16945621	0.84[EUR][1000 genomes]
rs16945624	0.84[EUR][1000 genomes]
rs16945629	0.84[EUR][1000 genomes]
rs16945641	0.84[EUR][1000 genomes]
rs16945644	0.84[EUR][1000 genomes]
rs16945648	0.84[EUR][1000 genomes]
rs16945650	0.84[EUR][1000 genomes]
rs16945652	0.84[EUR][1000 genomes]
rs16945661	0.84[EUR][1000 genomes]
rs16945662	0.84[EUR][1000 genomes]
rs16945673	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945694	0.94[EUR][1000 genomes]
rs16945716	0.88[AMR][1000 genomes]
rs16945720	0.88[AMR][1000 genomes]
rs1901903	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1973217	0.83[AMR][1000 genomes]
rs2046531	0.84[EUR][1000 genomes]
rs2054000	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2101373	0.84[EUR][1000 genomes]
rs2341961	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28375672	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28385551	0.84[EUR][1000 genomes]
rs28409782	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28412153	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28418647	0.87[EUR][1000 genomes]
rs28434188	0.87[EUR][1000 genomes]
rs28440861	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28448361	0.84[EUR][1000 genomes]
rs28454787	0.87[EUR][1000 genomes]
rs28496502	0.87[EUR][1000 genomes]
rs28497443	0.84[EUR][1000 genomes]
rs28539472	0.87[EUR][1000 genomes]
rs28539843	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28542319	0.84[EUR][1000 genomes]
rs28566036	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28577066	0.84[EUR][1000 genomes]
rs28581476	0.87[EUR][1000 genomes]
rs28589989	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28590410	0.84[EUR][1000 genomes]
rs28597108	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28606368	1.00[EUR][1000 genomes]
rs28630392	0.87[EUR][1000 genomes]
rs28656465	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28679750	0.87[EUR][1000 genomes]
rs28680748	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28688420	0.84[EUR][1000 genomes]
rs28688663	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28690829	0.87[EUR][1000 genomes]
rs28691740	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28712810	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28754618	0.84[EUR][1000 genomes]
rs2880205	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28853924	0.87[EUR][1000 genomes]
rs28854517	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28865322	0.84[EUR][1000 genomes]
rs28887790	0.84[AFR][1000 genomes]
rs3852743	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3903067	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3950354	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4271615	0.84[EUR][1000 genomes]
rs55898403	0.88[AMR][1000 genomes]
rs56687111	0.84[EUR][1000 genomes]
rs57930434	0.84[EUR][1000 genomes]
rs58190241	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58550976	0.84[EUR][1000 genomes]
rs60049376	0.84[EUR][1000 genomes]
rs60201061	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60943725	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61053970	0.84[EUR][1000 genomes]
rs61115457	0.84[EUR][1000 genomes]
rs61326782	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61465994	0.84[EUR][1000 genomes]
rs6500318	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6500376	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6598598	0.84[EUR][1000 genomes]
rs6598602	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6598613	0.84[EUR][1000 genomes]
rs7184358	0.84[EUR][1000 genomes]
rs7185753	0.84[EUR][1000 genomes]
rs7186530	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7186864	0.84[EUR][1000 genomes]
rs7186924	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7187134	0.84[EUR][1000 genomes]
rs7187393	0.84[EUR][1000 genomes]
rs7187488	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7189446	0.84[EUR][1000 genomes]
rs7190225	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7190399	0.84[EUR][1000 genomes]
rs7193023	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7193794	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7193945	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7195074	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7197471	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7197882	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7198023	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7198908	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7199392	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7200406	0.84[EUR][1000 genomes]
rs7201764	0.84[EUR][1000 genomes]
rs7202145	0.84[EUR][1000 genomes]
rs7202457	0.84[EUR][1000 genomes]
rs7202612	0.84[EUR][1000 genomes]
rs7203019	0.84[EUR][1000 genomes]
rs7205263	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7205736	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs728884	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73534789	0.84[EUR][1000 genomes]
rs73534794	0.81[EUR][1000 genomes]
rs73536704	0.84[EUR][1000 genomes]
rs73536711	0.84[EUR][1000 genomes]
rs73536717	0.87[EUR][1000 genomes]
rs73536721	0.87[EUR][1000 genomes]
rs73536725	0.87[EUR][1000 genomes]
rs73536729	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73536749	1.00[EUR][1000 genomes]
rs73536752	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73536754	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73536758	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73536770	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73536779	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73536785	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73536798	0.94[EUR][1000 genomes]
rs73536906	0.84[EUR][1000 genomes]
rs73536913	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73536920	0.84[EUR][1000 genomes]
rs73536936	0.84[EUR][1000 genomes]
rs73536939	0.84[EUR][1000 genomes]
rs73539129	0.94[EUR][1000 genomes]
rs73539135	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73539141	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73539146	0.94[EUR][1000 genomes]
rs73544253	0.84[EUR][1000 genomes]
rs73544267	0.84[EUR][1000 genomes]
rs73544271	0.84[EUR][1000 genomes]
rs73544281	0.84[EUR][1000 genomes]
rs73544284	0.84[EUR][1000 genomes]
rs73546131	0.84[EUR][1000 genomes]
rs73546132	0.84[EUR][1000 genomes]
rs73546138	0.84[EUR][1000 genomes]
rs73546141	0.84[EUR][1000 genomes]
rs73546143	0.84[EUR][1000 genomes]
rs73551221	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73551228	0.84[EUR][1000 genomes]
rs73551230	0.84[EUR][1000 genomes]
rs73551233	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73551238	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73552163	0.84[EUR][1000 genomes]
rs73552167	0.84[EUR][1000 genomes]
rs7500284	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8043743	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8044496	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8046175	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8046259	0.84[EUR][1000 genomes]
rs8046482	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8047342	0.84[EUR][1000 genomes]
rs8048233	0.84[EUR][1000 genomes]
rs8048279	0.84[EUR][1000 genomes]
rs8049111	0.84[EUR][1000 genomes]
rs8050977	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8052294	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8053042	0.84[EUR][1000 genomes]
rs8053678	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8054017	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8054264	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8054582	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8054830	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8055624	0.84[EUR][1000 genomes]
rs8055695	0.84[EUR][1000 genomes]
rs8055999	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8059334	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8061062	0.84[EUR][1000 genomes]
rs8061556	0.84[EUR][1000 genomes]
rs8061656	0.84[EUR][1000 genomes]
rs8062269	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8062495	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8062847	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8064036	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8064193	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs876258	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs918178	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9328600	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9746012	0.84[EUR][1000 genomes]
rs9746020	0.84[EUR][1000 genomes]
rs9921542	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9922381	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9923591	0.84[EUR][1000 genomes]
rs9924657	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9924916	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9926150	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9926598	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9926971	0.84[EUR][1000 genomes]
rs9927096	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9927438	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9927787	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9927829	0.84[EUR][1000 genomes]
rs9929392	0.84[EUR][1000 genomes]
rs9929794	0.84[EUR][1000 genomes]
rs9930026	0.84[EUR][1000 genomes]
rs9931638	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9931666	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9932128	0.84[EUR][1000 genomes]
rs9933191	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9934384	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9934478	0.81[EUR][1000 genomes]
rs9934668	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935542	0.84[EUR][1000 genomes]
rs9936580	0.84[EUR][1000 genomes]
rs9937177	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9937514	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9938346	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9938516	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9939949	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9940448	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9940610	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv428657	chr16:47748036-47913816	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
5	esv3351124	chr16:47886851-47890349	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	n/a
6	esv3433157	chr16:47886851-47891049	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47883000-47890600	Weak transcription	Fetal Brain Female	brain
2	chr16:47883200-47889800	Weak transcription	Gastric	stomach
3	chr16:47883400-47899600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:47883800-47893000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:47885400-47891000	Weak transcription	Fetal Brain Male	brain
6	chr16:47885600-47892400	Weak transcription	Brain Anterior Caudate	brain
7	chr16:47888400-47890200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:47889400-47889800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:47889400-47890000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:47889400-47893400	Enhancers	Brain Germinal Matrix	brain

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