Variant report

Variant	rs17583579
Chromosome Location	chr4:106107504-106107505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1114718	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11933960	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12498609	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12506006	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12511800	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12640842	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12642165	1.00[JPT][hapmap]
rs12647779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391442	0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17583593	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17616993	0.88[EUR][1000 genomes]
rs2023841	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2088484	1.00[JPT][hapmap]
rs2636697	1.00[MEX][hapmap]
rs2866774	1.00[CEU][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6533180	1.00[CEU][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6533185	1.00[MEX][hapmap];0.88[TSI][hapmap]
rs73836038	0.95[AFR][1000 genomes]
rs73836040	1.00[AFR][1000 genomes]
rs949681	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9637601	0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[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	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830025	chr4:105988876-106137946	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106069400-106114200	Weak transcription	Esophagus	oesophagus
2	chr4:106070400-106107800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:106070400-106111600	Weak transcription	Placenta	Placenta
4	chr4:106077000-106112000	Weak transcription	Aorta	Aorta
5	chr4:106078000-106112800	Weak transcription	Fetal Kidney	kidney
6	chr4:106080600-106107800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:106083600-106109200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:106083800-106111400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:106084800-106127400	Weak transcription	Brain Germinal Matrix	brain
10	chr4:106085600-106112800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:106092000-106110600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:106093800-106111200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr4:106093800-106112400	Weak transcription	Primary B cells from cord blood	blood
14	chr4:106094000-106112600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:106096200-106111600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:106096400-106111200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:106098000-106111400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:106098200-106113200	Weak transcription	Fetal Stomach	stomach
19	chr4:106099000-106114200	Weak transcription	Gastric	stomach
20	chr4:106100800-106108000	Weak transcription	Osteobl	bone
21	chr4:106101000-106146600	Weak transcription	Spleen	Spleen
22	chr4:106101200-106112600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:106101200-106112800	Weak transcription	NHDF-Ad	bronchial
24	chr4:106101400-106112200	Weak transcription	Right Atrium	heart
25	chr4:106101600-106112800	Weak transcription	HSMM	muscle
26	chr4:106102200-106107800	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:106102600-106112800	Weak transcription	HSMMtube	muscle
28	chr4:106102600-106113400	Weak transcription	K562	blood
29	chr4:106102800-106107800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:106102800-106127400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:106103000-106109000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:106103000-106111000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:106103600-106107800	Weak transcription	Pancreas	Pancrea
34	chr4:106103600-106112200	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:106104800-106117400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:106105000-106108600	Enhancers	Stomach Mucosa	stomach
37	chr4:106105200-106117800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr4:106105800-106108400	Enhancers	Left Ventricle	heart
39	chr4:106106000-106107800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:106106000-106110800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:106106000-106112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:106106000-106135000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:106106200-106108600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr4:106106200-106110200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:106106200-106110800	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:106106200-106111000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr4:106106200-106111400	Weak transcription	Adipose Nuclei	Adipose
48	chr4:106106200-106111400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr4:106106200-106112200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:106106200-106112400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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