Variant report

Variant	rs2608495
Chromosome Location	chr19:52940519-52940520
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 175 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10408608	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10410134	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10853848	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10853849	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11084159	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11084160	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11084161	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11084162	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11084163	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1112889	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1115659	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1115660	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11879152	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12459176	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12460429	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1366257	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1366258	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1366259	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1379639	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1428177	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1428178	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1428179	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1428180	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457854	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1457855	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1457856	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1457857	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1457858	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1465558	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1465559	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1582914	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1617840	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1651527	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1651532	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1651533	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1651534	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1651535	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1651536	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1651537	0.92[EUR][1000 genomes]
rs1651538	0.82[EUR][1000 genomes]
rs1673892	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1673893	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1673894	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1673900	0.92[EUR][1000 genomes]
rs1673901	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1673902	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1673903	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1673904	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1673905	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1673906	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1673907	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1673908	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1673909	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1673910	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1673911	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1673912	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1673913	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1673914	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1673915	0.86[ASN][1000 genomes]
rs1817266	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1840997	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1840998	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1864019	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1896640	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1896641	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1896642	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1896644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2042912	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2099053	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2115101	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2115103	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2168792	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2434459	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2434461	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2446078	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2446079	0.87[ASN][1000 genomes]
rs2560997	0.95[ASN][1000 genomes]
rs2560998	0.86[ASN][1000 genomes]
rs2560999	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2561000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2561002	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2561003	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2561005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2561006	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2561007	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2561008	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2561009	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2561010	0.83[ASN][1000 genomes]
rs2561011	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2561012	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2561013	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2561014	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2561023	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2561024	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2561025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2561026	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2561027	0.92[ASN][1000 genomes]
rs2561028	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2608487	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2608488	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2608489	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2608491	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2608492	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608493	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608496	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2608497	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2608498	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2608499	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2608500	0.84[ASN][1000 genomes]
rs2608501	0.85[ASN][1000 genomes]
rs2608502	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2608504	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2608505	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2608506	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2608536	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2608537	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2608541	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28451504	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2903895	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs324092	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324096	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324103	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324104	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs324106	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs324107	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs324113	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs324114	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs324115	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs324116	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs324117	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs324118	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35170850	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4340424	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4404182	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4553728	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4801916	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4802939	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4802944	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4802945	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4802949	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4802950	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4802951	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4802952	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4802953	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6509636	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6509637	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6509638	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6509641	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6509643	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7246597	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7247031	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7247289	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72483966	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7252655	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8102815	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8110808	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8110920	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8182524	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8182529	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8182531	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8182532	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8182563	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs970555	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs970556	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs979156	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs979157	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs979158	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs979159	1.00[EUR][1000 genomes];0.88[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	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52927400-52941200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr19:52929000-52941400	Weak transcription	Brain Substantia Nigra	brain
3	chr19:52930000-52941400	Weak transcription	Brain Hippocampus Middle	brain
4	chr19:52937200-52941200	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr19:52938800-52941600	Weak transcription	Brain Angular Gyrus	brain
6	chr19:52939000-52940600	Weak transcription	Aorta	Aorta
7	chr19:52939000-52940800	Weak transcription	Brain Anterior Caudate	brain
8	chr19:52939000-52940800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr19:52939000-52941200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:52939000-52941200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr19:52939000-52941600	Weak transcription	Ovary	ovary
12	chr19:52940200-52943400	Weak transcription	Brain Germinal Matrix	brain
13	chr19:52940400-52942000	ZNF genes & repeats	Left Ventricle	heart

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