Variant report

Variant	rs9633326
Chromosome Location	chr1:166853620-166853621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166852398..166855060-chr1:166856070..166859202,3	MCF-7	breast:
2	chr1:166851966..166853993-chr1:166858092..166859598,2	K562	blood:
3	chr1:166844292..166848543-chr1:166849353..166853640,5	K562	blood:
4	chr1:166853236..166854178-chr1:167028153..167029177,4	K562	blood:
5	chr1:166853586..166858424-chr1:166860455..166864080,4	K562	blood:

Variant related genes	Relation type
ENSG00000152382	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10800270	0.84[ASN][1000 genomes]
rs10800276	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs11576904	0.92[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs11583927	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11584352	0.99[ASN][1000 genomes]
rs12562794	0.91[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1476347	0.82[CHB][hapmap]
rs1543313	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2038020	0.96[EUR][1000 genomes]
rs2038022	0.96[CEU][hapmap];0.91[TSI][hapmap];0.96[EUR][1000 genomes]
rs2072740	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075946	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2223221	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2280995	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2294195	0.94[ASN][1000 genomes]
rs2294220	0.88[EUR][1000 genomes]
rs34381372	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3820387	0.81[JPT][hapmap]
rs4656516	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657609	0.97[ASN][1000 genomes]
rs4657612	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657613	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs6427048	0.80[CEU][hapmap]
rs6677644	0.80[CEU][hapmap];0.84[TSI][hapmap]
rs7513457	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7520897	0.80[CEU][hapmap];0.84[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9633326	APOA2	cis	cerebellum	SCAN
rs9633326	TADA1	cis	cerebellum	SCAN
rs9633326	TBX19	cis	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166853000-166853800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr1:166853000-166853800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:166853000-166853800	Enhancers	Gastric	stomach
4	chr1:166853000-166854000	Enhancers	Liver	Liver
5	chr1:166853000-166854400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr1:166853200-166853800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:166853200-166853800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:166853200-166853800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:166853200-166853800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:166853200-166853800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:166853200-166853800	Active TSS	Brain Anterior Caudate	brain
12	chr1:166853200-166853800	Active TSS	Brain Cingulate Gyrus	brain
13	chr1:166853200-166853800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
14	chr1:166853200-166853800	Enhancers	Colon Smooth Muscle	Colon
15	chr1:166853200-166853800	Bivalent Enhancer	Fetal Lung	lung
16	chr1:166853200-166853800	Bivalent Enhancer	Left Ventricle	heart
17	chr1:166853200-166853800	Enhancers	Spleen	Spleen
18	chr1:166853200-166854000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr1:166853200-166854000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr1:166853200-166854000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:166853200-166854000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:166853200-166854000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:166853200-166854000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:166853200-166854000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr1:166853200-166854000	Bivalent Enhancer	Placenta	Placenta
26	chr1:166853200-166854000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
27	chr1:166853200-166854200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr1:166853200-166854200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr1:166853200-166854400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr1:166853200-166854800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr1:166853400-166853800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:166853400-166853800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr1:166853400-166853800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
34	chr1:166853400-166853800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:166853400-166853800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr1:166853400-166853800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:166853400-166853800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:166853400-166853800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:166853400-166853800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:166853400-166853800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:166853400-166853800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
42	chr1:166853400-166853800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
43	chr1:166853400-166853800	Flanking Active TSS	Pancreas	Pancrea
44	chr1:166853400-166853800	Flanking Active TSS	Right Atrium	heart
45	chr1:166853400-166853800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr1:166853400-166853800	Bivalent Enhancer	NH-A	brain
47	chr1:166853400-166854000	Enhancers	Brain Substantia Nigra	brain
48	chr1:166853400-166854200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:166853400-166854600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:166853400-166854600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood

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