Variant report

Variant	rs3943122
Chromosome Location	chr4:48382543-48382544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10517218	0.83[ASN][1000 genomes]
rs13101954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105648	0.80[ASN][1000 genomes]
rs13142082	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1352432	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1466631	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17472127	1.00[CHB][hapmap]
rs1844149	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2029347	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291476	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28840724	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34239305	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34380340	0.83[ASN][1000 genomes]
rs35265097	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35963236	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs36157430	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs366168	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs375259	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3811759	1.00[CHB][hapmap];0.95[CHD][hapmap]
rs384885	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs393338	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs397257	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs401463	0.83[EUR][1000 genomes]
rs409911	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4694894	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4695374	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs565234	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs565385	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62309450	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62311260	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6447629	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6447641	1.00[YRI][hapmap]
rs66671150	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6819696	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6819847	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6824125	1.00[CHB][hapmap]
rs6847622	0.80[ASN][1000 genomes]
rs73246021	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73246023	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs745761	0.86[JPT][hapmap]
rs7698564	0.82[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	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48355000-48412600	Weak transcription	Aorta	Aorta
2	chr4:48355800-48390600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:48357200-48384600	Weak transcription	Lung	lung
4	chr4:48359200-48384400	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:48361000-48384600	Weak transcription	Fetal Stomach	stomach
6	chr4:48362600-48384600	Weak transcription	Left Ventricle	heart
7	chr4:48363000-48384600	Weak transcription	Ovary	ovary
8	chr4:48363400-48405400	Weak transcription	Right Ventricle	heart
9	chr4:48363600-48382600	Weak transcription	Fetal Brain Male	brain
10	chr4:48363600-48382800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:48368600-48384600	Weak transcription	Thymus	Thymus
12	chr4:48368800-48384600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:48369600-48382600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:48371400-48395400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:48372000-48384200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr4:48372600-48387000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:48372600-48426800	Weak transcription	Small Intestine	intestine
18	chr4:48372800-48382600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:48372800-48384600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:48373000-48384400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:48373000-48384800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:48374000-48383000	Weak transcription	Fetal Thymus	thymus
23	chr4:48374000-48384600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:48374000-48385600	Weak transcription	Right Atrium	heart
25	chr4:48375800-48384600	Weak transcription	K562	blood
26	chr4:48377800-48384600	Weak transcription	Pancreas	Pancrea
27	chr4:48377800-48405000	Weak transcription	Esophagus	oesophagus
28	chr4:48377800-48423800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:48378000-48384600	Weak transcription	Fetal Kidney	kidney
30	chr4:48378000-48384800	Weak transcription	Colonic Mucosa	Colon
31	chr4:48378000-48386400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:48378000-48390000	Weak transcription	NHLF	lung
33	chr4:48378000-48423800	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:48378200-48384600	Weak transcription	NHDF-Ad	bronchial
35	chr4:48378200-48386400	Weak transcription	Hela-S3	cervix
36	chr4:48378200-48398400	Weak transcription	A549	lung
37	chr4:48378400-48382600	Weak transcription	Fetal Intestine Large	intestine
38	chr4:48378400-48382800	Weak transcription	HUVEC	blood vessel
39	chr4:48378400-48384600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:48378400-48384600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:48378400-48384600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:48378400-48384600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:48378400-48387000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:48378400-48395200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr4:48378400-48405000	Weak transcription	Gastric	stomach
46	chr4:48378400-48405200	Weak transcription	Psoas Muscle	Psoas
47	chr4:48378600-48382800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr4:48378600-48384600	Weak transcription	Liver	Liver
49	chr4:48378600-48384600	Weak transcription	Fetal Intestine Small	intestine
50	chr4:48378600-48384600	Weak transcription	Osteobl	bone

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