Variant report

Variant	rs519343
Chromosome Location	chr1:92620991-92620992
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10783109	0.90[ASN][1000 genomes]
rs10783112	0.83[EUR][1000 genomes]
rs10875204	0.90[ASN][1000 genomes]
rs10875209	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875214	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875237	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11166141	0.90[ASN][1000 genomes]
rs11166144	0.90[ASN][1000 genomes]
rs11166184	0.90[ASN][1000 genomes]
rs1157470	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12119246	0.90[ASN][1000 genomes]
rs1226176	0.89[ASN][1000 genomes]
rs1226179	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1226183	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1226187	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12753920	0.82[EUR][1000 genomes]
rs1384612	0.81[EUR][1000 genomes]
rs1384613	0.81[EUR][1000 genomes]
rs1601020	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1601021	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1601023	0.90[ASN][1000 genomes]
rs17519385	0.81[EUR][1000 genomes]
rs17578686	0.81[EUR][1000 genomes]
rs1982720	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2069051	0.81[EUR][1000 genomes]
rs2093879	0.90[ASN][1000 genomes]
rs2128645	0.90[ASN][1000 genomes]
rs2181897	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2209337	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2391114	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2391116	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2839877	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2893200	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35015161	0.81[EUR][1000 genomes]
rs3851271	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3851272	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3851273	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4261159	0.90[ASN][1000 genomes]
rs4437922	0.90[ASN][1000 genomes]
rs4623754	0.90[ASN][1000 genomes]
rs4658127	0.90[ASN][1000 genomes]
rs4658128	0.90[ASN][1000 genomes]
rs4658129	0.90[ASN][1000 genomes]
rs4658290	0.90[ASN][1000 genomes]
rs4658291	0.90[ASN][1000 genomes]
rs4658294	0.83[EUR][1000 genomes]
rs488288	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488849	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs490800	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492164	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs493595	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504606	0.89[EUR][1000 genomes]
rs504613	0.89[EUR][1000 genomes]
rs504706	0.85[EUR][1000 genomes]
rs506375	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506377	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs507452	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511546	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515280	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs519623	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519932	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs527412	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529135	1.00[ASN][1000 genomes]
rs534547	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539288	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs544557	0.92[EUR][1000 genomes]
rs547699	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551909	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553861	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs556980	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs560389	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs563113	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563606	1.00[ASN][1000 genomes]
rs564971	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569178	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569593	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs569962	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs570368	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs573044	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575805	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604080	0.81[EUR][1000 genomes]
rs6677184	0.90[ASN][1000 genomes]
rs6684317	0.90[ASN][1000 genomes]
rs7533077	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7537221	0.89[ASN][1000 genomes]
rs7541482	0.90[ASN][1000 genomes]
rs7542358	0.90[ASN][1000 genomes]
rs7542373	0.90[ASN][1000 genomes]
rs7545076	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549158	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9661633	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs981583	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv871415	chr1:92340684-92641607	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv871144	chr1:92380302-92641607	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv546821	chr1:92525678-92650349	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92567200-92624200	Weak transcription	Fetal Stomach	stomach
2	chr1:92590200-92624400	Weak transcription	Psoas Muscle	Psoas
3	chr1:92597600-92621000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:92601200-92634400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:92609800-92651200	Weak transcription	Fetal Kidney	kidney
6	chr1:92612200-92623000	Weak transcription	Right Ventricle	heart
7	chr1:92612200-92626000	Weak transcription	Thymus	Thymus
8	chr1:92613400-92645400	Weak transcription	Gastric	stomach
9	chr1:92614000-92627600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:92614600-92625800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:92614800-92623200	Weak transcription	Aorta	Aorta
12	chr1:92614800-92624400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:92615600-92622800	Weak transcription	Spleen	Spleen
14	chr1:92615600-92626000	Weak transcription	Brain Angular Gyrus	brain
15	chr1:92615600-92646000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:92616800-92625000	Weak transcription	Fetal Lung	lung
17	chr1:92619800-92621000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:92619800-92623200	Weak transcription	Lung	lung
19	chr1:92619800-92624400	Weak transcription	Pancreas	Pancrea
20	chr1:92619800-92626000	Weak transcription	Left Ventricle	heart
21	chr1:92620000-92623000	Weak transcription	Ovary	ovary
22	chr1:92620200-92621000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:92620400-92621000	ZNF genes & repeats	Dnd41	blood
24	chr1:92620600-92624800	Weak transcription	Primary T cells from cord blood	blood
25	chr1:92620600-92634400	Weak transcription	Brain Substantia Nigra	brain
26	chr1:92620600-92646000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:92620800-92622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:92620800-92622800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:92620800-92623000	Weak transcription	Adipose Nuclei	Adipose
30	chr1:92620800-92623800	Weak transcription	Fetal Intestine Large	intestine
31	chr1:92620800-92624200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:92620800-92625000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:92620800-92625200	Weak transcription	Brain Anterior Caudate	brain
34	chr1:92620800-92633400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:92620800-92645800	Weak transcription	Rectal Mucosa Donor 31	rectum

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