Variant report

Variant	rs1592467
Chromosome Location	chr7:33253128-33253129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1008582	0.81[ASN][1000 genomes]
rs1019300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10228013	0.81[ASN][1000 genomes]
rs10228439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10233296	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10250045	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10268074	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10270013	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10278145	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10279081	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10279513	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1030029	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10951382	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10951383	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12155105	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12537278	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537836	0.84[EUR][1000 genomes]
rs12671191	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1345307	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1345308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1362371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1420147	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1420155	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1420158	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1592465	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1592466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1819826	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1833177	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1894873	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1969575	0.89[EUR][1000 genomes]
rs2024430	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2392230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2392231	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4720109	0.87[EUR][1000 genomes]
rs4720115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723261	0.90[EUR][1000 genomes]
rs5012441	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6462463	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6462464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6462466	0.82[ASN][1000 genomes]
rs6462467	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6944623	0.86[EUR][1000 genomes]
rs6950434	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs721533	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs764041	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7778657	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7778892	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7780194	0.87[EUR][1000 genomes]
rs7789344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791710	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7803065	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7806637	0.84[EUR][1000 genomes]
rs7809540	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964707	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs986553	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33248000-33255400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:33249400-33257200	Weak transcription	Fetal Brain Male	brain
3	chr7:33249800-33254600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:33250600-33260400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:33251000-33255000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:33251400-33253800	Weak transcription	Pancreas	Pancrea
7	chr7:33251400-33265400	Weak transcription	Gastric	stomach
8	chr7:33251600-33254200	Weak transcription	Right Ventricle	heart
9	chr7:33251800-33254400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:33252000-33253600	Strong transcription	Primary T cells from cord blood	blood
11	chr7:33252000-33254600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:33252000-33255000	Weak transcription	Liver	Liver
13	chr7:33252000-33255200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:33252000-33262000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:33252200-33254000	Strong transcription	Ovary	ovary
16	chr7:33252200-33254600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:33252200-33255200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:33252400-33253200	Strong transcription	Fetal Lung	lung
19	chr7:33252400-33253600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:33252400-33254000	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr7:33252400-33254000	ZNF genes & repeats	Fetal Stomach	stomach
22	chr7:33252400-33254200	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr7:33252400-33254200	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr7:33252400-33255200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:33252400-33261600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:33252400-33263200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr7:33252600-33253800	Weak transcription	Brain Angular Gyrus	brain
28	chr7:33252600-33254000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:33252600-33254400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:33252600-33254600	Weak transcription	Primary B cells from cord blood	blood
31	chr7:33252600-33254800	Weak transcription	HepG2	liver
32	chr7:33252600-33255400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:33252800-33254200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:33252800-33254400	Weak transcription	Brain Germinal Matrix	brain
35	chr7:33252800-33255400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:33252800-33255600	Weak transcription	Brain Anterior Caudate	brain
37	chr7:33252800-33266400	Weak transcription	Left Ventricle	heart
38	chr7:33253000-33253200	Enhancers	Stomach Smooth Muscle	stomach
39	chr7:33253000-33253600	Weak transcription	Aorta	Aorta
40	chr7:33253000-33253800	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr7:33253000-33254200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:33253000-33255000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:33253000-33255800	Weak transcription	Brain Hippocampus Middle	brain

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