Variant report

Variant	rs4802952
Chromosome Location	chr19:52965148-52965149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:169)

rs_ID	r²[population]
rs10408608	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10410134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10853848	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10853849	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11084159	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11084160	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11084161	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11084162	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11084163	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1112889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1115659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1115660	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11879152	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12459176	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12460429	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1366257	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1366258	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1366259	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1379639	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1428177	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1428178	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1428179	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1428180	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1457854	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1457855	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1457856	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1457857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1457858	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1465558	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1465559	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1582914	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1617840	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1651527	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1651532	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1651533	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1651534	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1651535	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1651536	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1651537	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1651538	0.85[EUR][1000 genomes]
rs1673892	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673893	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1673894	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673900	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1673901	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1673902	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673903	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673904	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673905	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673906	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1673907	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673908	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673909	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673910	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1673911	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1673912	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673913	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673914	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673915	0.92[ASN][1000 genomes]
rs1817266	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1840997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1840998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1864019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1896640	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1896641	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1896642	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1896644	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2042912	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2099053	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2115101	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2115103	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2168792	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2434459	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2434461	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2446078	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2446079	0.86[ASN][1000 genomes]
rs2560997	0.89[ASN][1000 genomes]
rs2560998	0.80[ASN][1000 genomes]
rs2560999	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561000	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2561002	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2561003	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561005	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2561006	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2561007	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2561008	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2561009	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2561010	0.84[ASN][1000 genomes]
rs2561011	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2561012	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2561013	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2561014	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2561023	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2561024	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2561025	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2561026	0.95[ASN][1000 genomes]
rs2561027	0.92[ASN][1000 genomes]
rs2561028	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2608487	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2608488	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2608489	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2608491	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2608492	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2608493	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2608494	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2608495	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2608496	0.93[ASN][1000 genomes]
rs2608497	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2608498	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2608499	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2608500	0.84[ASN][1000 genomes]
rs2608501	0.84[ASN][1000 genomes]
rs2608502	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2608504	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2608505	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2608506	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2608536	0.95[ASN][1000 genomes]
rs2608537	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2608541	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28451504	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2903895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324092	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs324096	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs324103	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs324104	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324106	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324107	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324113	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324114	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324115	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324116	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324117	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324118	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35170850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4340424	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4404182	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4553728	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4801916	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4802939	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4802944	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4802945	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4802949	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4802950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802951	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4802953	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509636	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6509637	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6509638	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6509641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7246597	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7247031	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7247289	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72483966	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7252655	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8102815	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8110808	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8110920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8182524	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8182529	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8182531	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8182532	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8182563	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs970555	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs970556	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs979156	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs979157	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs979158	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs979159	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3415774	chr19:52938189-52970794	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52956000-52969600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr19:52956000-52986200	ZNF genes & repeats	Liver	Liver
3	chr19:52957400-52970200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr19:52957600-52967200	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:52957600-52967400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:52957800-52967000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:52957800-52968800	ZNF genes & repeats	Brain Germinal Matrix	brain
8	chr19:52957800-52969600	ZNF genes & repeats	Fetal Brain Female	brain
9	chr19:52957800-52970000	ZNF genes & repeats	Brain Anterior Caudate	brain
10	chr19:52957800-52990400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr19:52959600-52966800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
12	chr19:52961400-52965400	Weak transcription	Aorta	Aorta
13	chr19:52961400-52965600	Weak transcription	Pancreas	Pancrea
14	chr19:52961600-52969200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:52962200-52965800	ZNF genes & repeats	Psoas Muscle	Psoas
16	chr19:52962400-52966000	ZNF genes & repeats	Fetal Brain Male	brain
17	chr19:52963400-52987600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:52963600-52965200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr19:52964400-52965400	Weak transcription	Left Ventricle	heart
20	chr19:52964600-52966600	Weak transcription	HSMM	muscle
21	chr19:52964800-52970600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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