Variant report

Variant	rs28712810
Chromosome Location	chr16:47860411-47860412
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 251 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:247)

rs_ID	r²[population]
rs1011532	1.00[EUR][1000 genomes]
rs10492847	0.84[EUR][1000 genomes]
rs10521162	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10521163	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11076576	0.92[AMR][1000 genomes]
rs11860828	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11862281	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11863178	1.00[EUR][1000 genomes]
rs1200967	1.00[EUR][1000 genomes]
rs12102746	0.88[AMR][1000 genomes]
rs12102755	0.88[AMR][1000 genomes]
rs12102942	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102967	0.88[AMR][1000 genomes]
rs12103248	0.88[AMR][1000 genomes]
rs12103260	0.88[AMR][1000 genomes]
rs13330337	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13330510	1.00[EUR][1000 genomes]
rs13331748	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13332058	1.00[EUR][1000 genomes]
rs13332953	0.92[EUR][1000 genomes]
rs13333024	0.92[AMR][1000 genomes]
rs13333199	0.92[AMR][1000 genomes]
rs13334408	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13335407	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13336200	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13337281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13337671	0.92[AMR][1000 genomes]
rs13337810	0.84[EUR][1000 genomes]
rs13337972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13338447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486419	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16942513	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945408	0.92[EUR][1000 genomes]
rs16945413	1.00[EUR][1000 genomes]
rs16945430	0.96[EUR][1000 genomes]
rs16945438	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945443	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945460	1.00[EUR][1000 genomes]
rs16945474	1.00[EUR][1000 genomes]
rs16945509	1.00[EUR][1000 genomes]
rs16945543	1.00[EUR][1000 genomes]
rs16945553	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945557	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945594	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945621	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945624	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945629	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945641	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945644	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945648	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945650	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945652	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945661	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945662	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945673	0.84[EUR][1000 genomes]
rs16945716	0.88[AMR][1000 genomes]
rs16945720	0.88[AMR][1000 genomes]
rs1901903	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1973217	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2046531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054000	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2101373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111226	0.89[EUR][1000 genomes]
rs2341961	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28375672	0.92[AMR][1000 genomes]
rs28385551	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28409782	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs28412153	0.92[AMR][1000 genomes]
rs28418647	0.96[EUR][1000 genomes]
rs28434188	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28448361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454787	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496502	0.96[EUR][1000 genomes]
rs28497443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28539472	0.96[EUR][1000 genomes]
rs28542319	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566036	0.84[EUR][1000 genomes]
rs28577066	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28581476	0.96[EUR][1000 genomes]
rs28590410	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28597108	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28606368	0.84[EUR][1000 genomes]
rs28630392	0.96[EUR][1000 genomes]
rs28656465	0.92[AMR][1000 genomes]
rs28679750	0.96[EUR][1000 genomes]
rs28680748	0.83[AMR][1000 genomes]
rs28688420	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688663	0.84[EUR][1000 genomes]
rs28690829	0.96[EUR][1000 genomes]
rs28691740	0.84[EUR][1000 genomes]
rs28715928	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28754618	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880205	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28853924	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28854517	0.92[AMR][1000 genomes]
rs28865322	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28887790	0.92[AFR][1000 genomes]
rs3903067	0.81[EUR][1000 genomes]
rs3950354	0.92[AMR][1000 genomes]
rs4271615	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55898403	0.88[AMR][1000 genomes]
rs56268318	1.00[EUR][1000 genomes]
rs56687111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57930434	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58190241	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58550976	1.00[EUR][1000 genomes]
rs60049376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60200500	1.00[EUR][1000 genomes]
rs60201061	0.92[AMR][1000 genomes]
rs61053970	1.00[EUR][1000 genomes]
rs61115457	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61465994	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6500318	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6500376	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs6598598	1.00[EUR][1000 genomes]
rs6598602	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6598613	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7184358	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7185753	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186530	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186864	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186924	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187134	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187393	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187488	0.92[AMR][1000 genomes]
rs7189446	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7190399	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193023	0.92[AMR][1000 genomes]
rs7193794	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193945	0.92[AMR][1000 genomes]
rs7194249	0.92[EUR][1000 genomes]
rs7195074	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7197471	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197659	1.00[EUR][1000 genomes]
rs7197882	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7198023	0.92[AMR][1000 genomes]
rs7199392	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199696	1.00[EUR][1000 genomes]
rs7200406	1.00[EUR][1000 genomes]
rs7201764	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7202145	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7202457	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7202612	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7203019	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7205263	0.88[AMR][1000 genomes]
rs7205736	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs728884	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73534789	1.00[EUR][1000 genomes]
rs73534794	0.96[EUR][1000 genomes]
rs73536704	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536711	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536717	0.96[EUR][1000 genomes]
rs73536721	0.96[EUR][1000 genomes]
rs73536725	0.96[EUR][1000 genomes]
rs73536729	0.84[EUR][1000 genomes]
rs73536749	0.84[EUR][1000 genomes]
rs73536752	0.81[EUR][1000 genomes]
rs73536770	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73536906	1.00[EUR][1000 genomes]
rs73536913	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73536920	1.00[EUR][1000 genomes]
rs73536936	1.00[EUR][1000 genomes]
rs73536939	1.00[EUR][1000 genomes]
rs73544253	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544267	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544284	1.00[EUR][1000 genomes]
rs73546131	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546132	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546138	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546141	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73551204	0.92[EUR][1000 genomes]
rs73551214	1.00[EUR][1000 genomes]
rs73551221	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551224	0.92[EUR][1000 genomes]
rs73551228	1.00[EUR][1000 genomes]
rs73551230	1.00[EUR][1000 genomes]
rs73551233	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551238	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73552163	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73552167	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7500284	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs8043743	0.92[AMR][1000 genomes]
rs8044496	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046175	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046259	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8046482	0.88[AMR][1000 genomes]
rs8047342	1.00[EUR][1000 genomes]
rs8048233	1.00[EUR][1000 genomes]
rs8048279	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8050977	0.92[AMR][1000 genomes]
rs8051273	0.92[EUR][1000 genomes]
rs8052294	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053042	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053678	0.88[AMR][1000 genomes]
rs8054017	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8054264	0.92[AMR][1000 genomes]
rs8054582	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8054830	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs8055624	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055695	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055999	0.92[AMR][1000 genomes]
rs8059334	0.92[AMR][1000 genomes]
rs8061062	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8061556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8061656	1.00[EUR][1000 genomes]
rs8062269	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8062495	0.84[AMR][1000 genomes]
rs8062847	0.92[AMR][1000 genomes]
rs8064036	0.92[AMR][1000 genomes]
rs8064193	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs876258	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs918178	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs9328600	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9746012	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9746020	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9746028	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921542	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9922381	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9923591	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9924916	0.92[AMR][1000 genomes]
rs9926150	0.92[AMR][1000 genomes]
rs9926971	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9927096	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9927438	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9927829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9929392	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9929794	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9930026	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9931638	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9931666	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9932128	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9933191	0.92[AMR][1000 genomes]
rs9934384	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9934478	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934668	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9935427	1.00[EUR][1000 genomes]
rs9935542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936361	0.92[EUR][1000 genomes]
rs9936580	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938516	0.92[AMR][1000 genomes]
rs9940448	0.84[AMR][1000 genomes]
rs9940610	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1055833	chr16:47776838-47875609	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47859600-47860600	Enhancers	Brain Angular Gyrus	brain
2	chr16:47859600-47860800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr16:47859800-47860600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:47860000-47860600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:47860200-47861400	Enhancers	Brain Cingulate Gyrus	brain
6	chr16:47860200-47861600	Enhancers	Brain Hippocampus Middle	brain
7	chr16:47860400-47860800	Enhancers	Brain Substantia Nigra	brain
8	chr16:47860400-47861000	Enhancers	Brain Anterior Caudate	brain

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