Variant report

Variant	rs324117
Chromosome Location	chr19:52971470-52971471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 180 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:174)

rs_ID	r²[population]
rs10408608	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10410134	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10853848	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10853849	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11084159	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11084160	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11084161	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11084162	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11084163	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1112889	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1115659	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1115660	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11879152	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12459176	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12460429	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1366257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1366258	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1366259	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1379639	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1428177	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1428178	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1428179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1428180	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1457854	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1457855	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1457856	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1457857	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457858	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1465558	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1465559	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1582914	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1617840	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1651527	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1651532	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1651533	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1651534	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1651535	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1651536	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1651537	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1651538	0.82[EUR][1000 genomes]
rs1673892	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1673893	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1673894	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1673900	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1673901	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1673902	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1673903	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673904	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673905	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673906	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1673907	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673908	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673909	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673910	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673911	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673912	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673913	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673914	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673915	0.96[ASN][1000 genomes]
rs1817266	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1840997	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1840998	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864019	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1896640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1896641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1896642	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1896644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2042912	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2099053	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2115101	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2115103	0.86[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2168792	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2168794	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2434459	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2434461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2446078	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2446079	0.83[ASN][1000 genomes]
rs2560997	0.85[ASN][1000 genomes]
rs2560999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2561000	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2561002	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561003	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2561005	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561006	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561007	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561011	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561012	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561013	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561014	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561015	1.00[CEU][hapmap]
rs2561016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2561017	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2561018	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2561023	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2561024	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2561025	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561026	0.92[ASN][1000 genomes]
rs2561027	0.88[ASN][1000 genomes]
rs2561028	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2608487	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2608488	0.95[CHB][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2608489	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2608491	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2608492	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2608493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2608494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2608495	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2608496	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2608497	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2608498	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2608499	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2608501	0.81[ASN][1000 genomes]
rs2608502	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2608504	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2608505	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2608506	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2608536	0.92[ASN][1000 genomes]
rs2608537	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2608541	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2608542	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2608543	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs28451504	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2903895	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324092	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs324096	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs324103	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324104	0.95[CHB][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs324106	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs324107	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs324113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35170850	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340424	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4404182	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4553728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4801916	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4802939	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4802944	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4802945	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4802949	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4802950	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4802951	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4802952	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4802953	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6509636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6509637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6509638	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6509641	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6509643	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246597	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247289	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72483966	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7252655	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102815	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8106806	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs8110808	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8110920	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8182524	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8182529	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8182531	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8182532	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8182563	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs970555	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs970556	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs979156	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs979157	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs979158	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs979159	1.00[EUR][1000 genomes];0.98[ASN][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	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	esv2762048	chr19:52895166-52997571	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv580026	chr19:52937100-53059872	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1063648	chr19:52938131-53041119	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr19:52956000-52986200	ZNF genes & repeats	Liver	Liver
2	chr19:52957800-52990400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:52963400-52987600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:52967800-52990600	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:52968000-52981400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
6	chr19:52969600-52971600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:52969600-52971600	Weak transcription	Brain Hippocampus Middle	brain
8	chr19:52969800-52971600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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