Variant report

Variant	rs702322
Chromosome Location	chr6:146007166-146007167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1011597	0.95[JPT][hapmap]
rs1070518	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10872580	0.95[JPT][hapmap]
rs11155438	0.95[JPT][hapmap]
rs12199362	0.95[JPT][hapmap];0.88[YRI][hapmap]
rs1280279	0.85[ASN][1000 genomes]
rs1292333	0.95[JPT][hapmap]
rs1292334	0.95[JPT][hapmap]
rs1337839	0.81[JPT][hapmap]
rs1337841	0.95[JPT][hapmap]
rs1415744	0.95[JPT][hapmap]
rs1415746	0.95[JPT][hapmap]
rs1415747	0.95[JPT][hapmap]
rs1890170	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1890171	0.95[JPT][hapmap]
rs1970306	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2050027	0.95[JPT][hapmap]
rs2064185	0.94[JPT][hapmap]
rs2142978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2142980	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2206142	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2223411	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2235481	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2246132	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2249386	0.85[JPT][hapmap]
rs2253654	0.85[JPT][hapmap]
rs2253757	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2265475	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2485631	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34541797	0.82[ASN][1000 genomes]
rs3811102	0.95[JPT][hapmap];0.88[YRI][hapmap]
rs403345	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs403956	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs426371	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4398765	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs441982	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4455694	0.81[ASN][1000 genomes]
rs455001	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4895683	0.95[JPT][hapmap]
rs4896832	0.95[JPT][hapmap]
rs4896837	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4896838	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4896839	0.81[ASN][1000 genomes]
rs62435775	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6570701	0.95[JPT][hapmap]
rs6570708	0.95[JPT][hapmap]
rs6900175	0.92[CHB][hapmap];0.95[JPT][hapmap]
rs6901888	0.95[JPT][hapmap]
rs6906258	0.95[JPT][hapmap]
rs6906402	0.95[JPT][hapmap]
rs6915718	0.95[JPT][hapmap]
rs6930154	0.95[JPT][hapmap]
rs6941429	0.95[JPT][hapmap]
rs697053	0.95[JPT][hapmap]
rs697054	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs697055	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs697056	0.81[ASN][1000 genomes]
rs702304	0.95[JPT][hapmap]
rs702306	0.94[JPT][hapmap]
rs702307	0.95[JPT][hapmap]
rs702316	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs702317	0.81[ASN][1000 genomes]
rs702318	0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs702319	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs702324	0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7752286	0.95[JPT][hapmap]
rs7753273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7753770	0.95[JPT][hapmap]
rs857875	0.95[JPT][hapmap]
rs857877	0.95[JPT][hapmap]
rs857880	0.95[JPT][hapmap]
rs857881	0.95[JPT][hapmap]
rs857882	0.95[JPT][hapmap]
rs857883	0.95[JPT][hapmap]
rs9373467	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9373475	0.95[JPT][hapmap]
rs9376951	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9376961	0.95[JPT][hapmap]
rs9376965	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9386136	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9390343	0.81[JPT][hapmap]
rs9390356	0.95[JPT][hapmap]
rs9399561	0.95[JPT][hapmap]
rs9403725	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9403737	0.95[JPT][hapmap]
rs9403739	0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9403742	0.85[JPT][hapmap]
rs9403749	0.85[JPT][hapmap];0.88[YRI][hapmap]
rs9485017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9497395	0.81[JPT][hapmap]
rs9497403	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs702322	EPM2A	cis	parietal	SCAN
rs702322	SHPRH	cis	cerebellum	SCAN
rs702322	SHPRH	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145980600-146010800	Weak transcription	Right Ventricle	heart
2	chr6:145991200-146008800	Weak transcription	Brain Angular Gyrus	brain
3	chr6:145991800-146009200	Weak transcription	NHDF-Ad	bronchial
4	chr6:145994800-146008400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:145995000-146010800	Weak transcription	Left Ventricle	heart
6	chr6:145995200-146013200	Weak transcription	Pancreas	Pancrea
7	chr6:145998800-146010800	Weak transcription	HSMMtube	muscle
8	chr6:145999000-146010800	Weak transcription	Psoas Muscle	Psoas
9	chr6:145999600-146008600	Weak transcription	Fetal Intestine Large	intestine
10	chr6:146000600-146010600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:146001600-146008800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:146001800-146012200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:146002200-146007800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:146002400-146009400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:146002800-146007400	Strong transcription	Liver	Liver
16	chr6:146003200-146008200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:146003200-146008800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:146003400-146007800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:146003400-146008600	Weak transcription	Fetal Thymus	thymus
20	chr6:146003400-146009000	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:146003400-146009400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:146003400-146010800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:146003400-146011600	Weak transcription	Brain Substantia Nigra	brain
24	chr6:146003400-146033600	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:146003600-146007400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:146003600-146008400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:146003600-146008400	Weak transcription	Dnd41	blood
28	chr6:146003600-146008600	Weak transcription	Fetal Brain Male	brain
29	chr6:146003600-146009400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:146003600-146009600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:146003600-146009600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:146003600-146010800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:146003600-146010800	Weak transcription	Aorta	Aorta
34	chr6:146003600-146020600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr6:146003600-146029400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:146003800-146007400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr6:146003800-146007400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:146003800-146007600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:146003800-146008000	Weak transcription	Primary T cells from cord blood	blood
40	chr6:146003800-146008000	Weak transcription	Brain Anterior Caudate	brain
41	chr6:146003800-146009200	Weak transcription	Thymus	Thymus
42	chr6:146003800-146009800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:146003800-146012200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:146003800-146012400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:146003800-146026600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:146003800-146029600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:146003800-146029600	Weak transcription	Ovary	ovary
48	chr6:146004000-146009000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:146004000-146009400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:146005000-146007400	Weak transcription	Primary B cells from peripheral blood	blood

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