Variant report

Variant	rs3819731
Chromosome Location	chr6:119570354-119570355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12209570	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12215906	0.94[ASN][1000 genomes]
rs1295391	0.86[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.84[YRI][hapmap]
rs1295392	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1324554	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs195048	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs195056	0.90[EUR][1000 genomes]
rs195058	0.86[EUR][1000 genomes]
rs195090	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs195092	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2057554	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2267673	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2267674	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2267675	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2267676	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299886	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2357164	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3778111	0.89[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs4946406	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7755155	0.96[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7755572	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9489630	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9489638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs975578	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv3370264	chr6:119570192-119570391	Strong transcription Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119547400-119583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:119558800-119571800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:119558800-119572000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:119558800-119572200	Weak transcription	Right Ventricle	heart
5	chr6:119558800-119572800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr6:119558800-119573600	Weak transcription	Lung	lung
7	chr6:119558800-119575200	Weak transcription	Esophagus	oesophagus
8	chr6:119558800-119576400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:119558800-119576400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr6:119558800-119576400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:119558800-119576400	Weak transcription	Dnd41	blood
12	chr6:119558800-119576600	Weak transcription	Spleen	Spleen
13	chr6:119558800-119576800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:119558800-119577600	Weak transcription	Aorta	Aorta
15	chr6:119558800-119578200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr6:119558800-119578200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr6:119558800-119578400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:119558800-119578600	Weak transcription	Fetal Thymus	thymus
19	chr6:119558800-119582200	Weak transcription	Colonic Mucosa	Colon
20	chr6:119558800-119589800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:119558800-119590200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:119558800-119590400	Weak transcription	GM12878-XiMat	blood
23	chr6:119558800-119602000	Weak transcription	Gastric	stomach
24	chr6:119562200-119579400	Weak transcription	NHEK	skin
25	chr6:119562600-119580000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:119562600-119580000	Weak transcription	Small Intestine	intestine
27	chr6:119562800-119582200	Weak transcription	Pancreas	Pancrea
28	chr6:119562800-119583000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:119562800-119590200	Weak transcription	Fetal Stomach	stomach
30	chr6:119562800-119590800	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:119563400-119570400	Weak transcription	Fetal Intestine Small	intestine
32	chr6:119563400-119571200	Weak transcription	Fetal Heart	heart
33	chr6:119563400-119573800	Weak transcription	Ovary	ovary
34	chr6:119563400-119588000	Weak transcription	Fetal Kidney	kidney
35	chr6:119563400-119590200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:119565000-119572000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:119565400-119571200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:119565400-119571800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:119565600-119572000	Strong transcription	K562	blood
40	chr6:119565600-119572200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr6:119565800-119572200	Strong transcription	Liver	Liver
42	chr6:119566800-119582600	Weak transcription	Fetal Lung	lung
43	chr6:119567400-119571000	Strong transcription	Adipose Nuclei	Adipose
44	chr6:119567400-119572400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr6:119568600-119571000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:119568600-119592600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr6:119568800-119577800	Strong transcription	HepG2	liver
48	chr6:119569000-119570800	Weak transcription	Brain Anterior Caudate	brain
49	chr6:119569000-119581600	Weak transcription	NHDF-Ad	bronchial
50	chr6:119569000-119583000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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