Variant report

Variant	rs1020760
Chromosome Location	chr4:103514445-103514446
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1005819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs1020759	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap]
rs11722146	1.00[JPT][hapmap]
rs11723120	1.00[JPT][hapmap]
rs118882	0.91[JPT][hapmap]
rs12509517	1.00[JPT][hapmap]
rs1585213	0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs1585215	0.91[JPT][hapmap]
rs1598859	1.00[JPT][hapmap]
rs1599961	0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs17032705	0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs170731	0.91[JPT][hapmap]
rs1801	1.00[JPT][hapmap]
rs2168805	0.93[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs230491	0.91[JPT][hapmap]
rs230492	0.91[JPT][hapmap]
rs230493	0.91[JPT][hapmap]
rs230495	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs230496	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs230498	0.91[JPT][hapmap]
rs230500	0.91[JPT][hapmap]
rs230504	0.91[JPT][hapmap]
rs230505	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs230509	0.91[JPT][hapmap]
rs230514	0.91[JPT][hapmap]
rs230515	0.90[JPT][hapmap]
rs230516	0.90[JPT][hapmap]
rs230519	0.91[JPT][hapmap]
rs230520	0.91[JPT][hapmap]
rs230521	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[YRI][hapmap]
rs230525	0.91[JPT][hapmap]
rs230526	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs230528	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs230529	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs230531	0.91[JPT][hapmap]
rs230532	0.91[JPT][hapmap]
rs230533	0.91[JPT][hapmap]
rs230534	0.91[JPT][hapmap]
rs230535	0.91[JPT][hapmap]
rs230539	0.87[JPT][hapmap]
rs230540	1.00[JPT][hapmap]
rs230541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs230542	1.00[JPT][hapmap]
rs3755867	1.00[JPT][hapmap]
rs3774933	0.92[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs3774936	0.91[JPT][hapmap]
rs3774937	0.91[JPT][hapmap]
rs3774938	0.93[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs3774956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3774959	1.00[JPT][hapmap]
rs3774963	1.00[JPT][hapmap]
rs3774964	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3817685	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs3821958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4235404	0.91[JPT][hapmap]
rs4648011	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs4648055	1.00[JPT][hapmap]
rs4648058	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4648068	1.00[JPT][hapmap]
rs4698858	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4698861	0.81[JPT][hapmap]
rs4698863	0.81[JPT][hapmap]
rs4699030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs747559	0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs9790601	1.00[JPT][hapmap]
rs980455	0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]

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	nsv830020	chr4:103387343-103581284	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1003490	chr4:103391483-103521772	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103473400-103524600	Weak transcription	Fetal Brain Male	brain
2	chr4:103483000-103518600	Weak transcription	Small Intestine	intestine
3	chr4:103483200-103516600	Weak transcription	Brain Angular Gyrus	brain
4	chr4:103483400-103541600	Weak transcription	K562	blood
5	chr4:103488200-103520000	Weak transcription	Fetal Kidney	kidney
6	chr4:103490800-103519200	Weak transcription	Stomach Mucosa	stomach
7	chr4:103495800-103516400	Weak transcription	NHLF	lung
8	chr4:103497000-103516600	Weak transcription	Brain Substantia Nigra	brain
9	chr4:103497600-103533400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr4:103498800-103520600	Weak transcription	Fetal Brain Female	brain
11	chr4:103500200-103515600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:103500200-103527600	Weak transcription	Pancreas	Pancrea
13	chr4:103500400-103516400	Weak transcription	Gastric	stomach
14	chr4:103500400-103522600	Weak transcription	Psoas Muscle	Psoas
15	chr4:103500400-103528200	Weak transcription	Right Ventricle	heart
16	chr4:103500800-103517400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:103502600-103532800	Weak transcription	Brain Germinal Matrix	brain
18	chr4:103502800-103517400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:103503200-103516800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:103504800-103516400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:103505000-103517400	Strong transcription	HSMMtube	muscle
22	chr4:103505600-103516600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:103506400-103514600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr4:103506400-103514800	Weak transcription	HUVEC	blood vessel
25	chr4:103507400-103515800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:103508000-103518600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:103508200-103517400	Weak transcription	Lung	lung
28	chr4:103508200-103518600	Weak transcription	Esophagus	oesophagus
29	chr4:103508200-103522800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:103508400-103515400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr4:103508400-103516800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:103508400-103517400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:103508400-103518600	Weak transcription	Thymus	Thymus
34	chr4:103508400-103519200	Weak transcription	Spleen	Spleen
35	chr4:103508400-103522400	Weak transcription	Fetal Stomach	stomach
36	chr4:103508600-103515600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:103508800-103515400	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:103508800-103518600	Weak transcription	Aorta	Aorta
39	chr4:103509400-103515800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:103509600-103514800	Weak transcription	NHDF-Ad	bronchial
41	chr4:103509600-103516600	Weak transcription	Hela-S3	cervix
42	chr4:103510000-103515000	Weak transcription	NHEK	skin
43	chr4:103510200-103515800	Weak transcription	HMEC	breast
44	chr4:103511200-103518600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr4:103511200-103525000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:103512000-103515400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:103512000-103516000	Weak transcription	Fetal Heart	heart
48	chr4:103512200-103516600	Weak transcription	Colonic Mucosa	Colon
49	chr4:103512400-103514600	Weak transcription	Adipose Nuclei	Adipose
50	chr4:103512400-103515400	Weak transcription	Dnd41	blood

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