Variant report

Variant	rs2356393
Chromosome Location	chr4:149113978-149113979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11099680	0.80[ASN][1000 genomes]
rs11099681	0.80[ASN][1000 genomes]
rs11099682	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13103165	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3843411	0.85[ASN][1000 genomes]
rs3843413	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3846304	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3846305	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3910052	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3910053	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3910054	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3910056	0.96[ASN][1000 genomes]
rs3910057	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4122852	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4835493	0.84[ASN][1000 genomes]
rs4835495	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835496	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835500	0.96[ASN][1000 genomes]
rs4835501	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4835503	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835504	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835505	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835506	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6535589	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6535590	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6535591	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6535593	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6535594	0.90[ASN][1000 genomes]
rs6820751	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6828665	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6841570	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6846591	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7656855	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7670108	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7673644	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032794	chr4:149046598-149135489	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537295	chr4:149046598-149135489	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149087600-149123400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:149088400-149122800	Weak transcription	Brain Angular Gyrus	brain
3	chr4:149094800-149124600	Weak transcription	Aorta	Aorta
4	chr4:149099000-149116600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:149099200-149123600	Weak transcription	Brain Anterior Caudate	brain
6	chr4:149102400-149114000	Weak transcription	Ovary	ovary
7	chr4:149103000-149114200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr4:149103400-149123200	Weak transcription	Small Intestine	intestine
9	chr4:149104000-149114400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:149105000-149114800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:149105200-149123600	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:149106600-149114800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:149109400-149116600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:149111000-149118600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:149111200-149114000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr4:149111600-149114200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:149111800-149123400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:149112000-149114000	Weak transcription	Colonic Mucosa	Colon
19	chr4:149112400-149116800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:149112400-149137400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:149112600-149114200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:149113000-149114600	Weak transcription	Fetal Kidney	kidney
23	chr4:149113000-149114800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr4:149113000-149123400	Weak transcription	Psoas Muscle	Psoas
25	chr4:149113200-149114400	Strong transcription	Fetal Muscle Leg	muscle
26	chr4:149113200-149114400	Enhancers	Left Ventricle	heart
27	chr4:149113200-149114600	Strong transcription	Lung	lung
28	chr4:149113200-149114600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:149113200-149115600	Strong transcription	Adipose Nuclei	Adipose
30	chr4:149113200-149115800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:149113200-149115800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr4:149113200-149116000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr4:149113200-149116800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:149113200-149117200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:149113400-149114000	Enhancers	Right Ventricle	heart
36	chr4:149113400-149114200	Enhancers	Right Atrium	heart
37	chr4:149113400-149114400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:149113400-149114600	ZNF genes & repeats	Fetal Stomach	stomach
39	chr4:149113400-149114600	Strong transcription	Gastric	stomach
40	chr4:149113400-149115600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:149113600-149114800	Strong transcription	Pancreas	Pancrea
42	chr4:149113600-149115400	Strong transcription	Rectal Smooth Muscle	rectum
43	chr4:149113600-149116000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:149113800-149114200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:149113800-149114600	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr4:149113800-149115400	Strong transcription	Liver	Liver
47	chr4:149113800-149115600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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