Variant report

Variant	rs9394162
Chromosome Location	chr6:33672865-33672866
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33395175..33398193-chr6:33670762..33673349,3	MCF-7	breast:
2	chr6:33555432..33562879-chr6:33670455..33680174,12	K562	blood:
3	chr6:33587378..33590676-chr6:33672561..33675408,3	K562	blood:
4	chr6:33667395..33669385-chr6:33670170..33673083,3	MCF-7	breast:
5	chr6:33557569..33559223-chr6:33672789..33674425,2	K562	blood:

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction
ENSG00000197251	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1014933	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10947430	0.87[AFR][1000 genomes]
rs10947434	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1555965	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2147656	0.86[AFR][1000 genomes]
rs2147657	0.86[AFR][1000 genomes]
rs2281829	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2296739	0.87[AFR][1000 genomes]
rs2966	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3227	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3818521	0.87[AFR][1000 genomes]
rs3818527	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3818530	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4711339	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4711340	0.87[AFR][1000 genomes]
rs4713659	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4713660	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4713661	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4713662	0.89[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4713663	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4713665	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4713666	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4713667	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6457739	0.89[AFR][1000 genomes]
rs6904816	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6916949	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6917140	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6928010	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6938056	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs749847	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7739505	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7759668	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7770465	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9366828	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9368773	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9368776	0.85[AFR][1000 genomes]
rs9380375	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9394163	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs942640	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs942643	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9469566	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9394162	ITPR3	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33661800-33675800	Weak transcription	Ovary	ovary
2	chr6:33663000-33678200	Weak transcription	Fetal Kidney	kidney
3	chr6:33663800-33678600	Weak transcription	Small Intestine	intestine
4	chr6:33664600-33678000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:33664800-33676200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:33665200-33678000	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:33665200-33678200	Weak transcription	Brain Substantia Nigra	brain
8	chr6:33665200-33678600	Weak transcription	Aorta	Aorta
9	chr6:33665400-33677800	Weak transcription	Stomach Mucosa	stomach
10	chr6:33665600-33678200	Weak transcription	NH-A	brain
11	chr6:33665600-33678400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:33665800-33676600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:33666000-33676200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:33666000-33676600	Weak transcription	Brain Angular Gyrus	brain
15	chr6:33666000-33677800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:33666000-33678200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:33666200-33677600	Weak transcription	Psoas Muscle	Psoas
18	chr6:33666400-33677800	Weak transcription	Brain Anterior Caudate	brain
19	chr6:33666600-33675800	Weak transcription	Adipose Nuclei	Adipose
20	chr6:33666600-33677800	Weak transcription	Right Atrium	heart
21	chr6:33666600-33678200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:33666600-33678400	Weak transcription	Colonic Mucosa	Colon
23	chr6:33666600-33678400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:33667000-33678400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:33667200-33675200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:33667200-33675400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:33667200-33675800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:33667200-33675800	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:33667200-33676000	Weak transcription	Brain Germinal Matrix	brain
30	chr6:33667200-33676800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:33668200-33674800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:33668400-33675000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:33668400-33675000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:33668400-33675000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:33668400-33675200	Weak transcription	Liver	Liver
36	chr6:33668400-33677800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:33668600-33674200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:33668600-33674400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:33668600-33675400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr6:33668600-33675800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:33668600-33675800	Weak transcription	HUVEC	blood vessel
42	chr6:33668600-33676000	Weak transcription	Pancreas	Pancrea
43	chr6:33668600-33676000	Weak transcription	Right Ventricle	heart
44	chr6:33668600-33676200	Weak transcription	Primary B cells from cord blood	blood
45	chr6:33668600-33676200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:33668600-33677800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:33668600-33677800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr6:33668600-33678000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:33668600-33678200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:33668600-33678200	Weak transcription	Brain Cingulate Gyrus	brain

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