Variant report

Variant	rs9289818
Chromosome Location	chr3:150315555-150315556
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150263844..150266274-chr3:150313789..150315957,2	MCF-7	breast:
2	chr3:150308650..150311598-chr3:150312485..150316009,3	K562	blood:

Variant related genes	Relation type
ENSG00000120742	Chromatin interaction
ENSG00000144895	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1133494	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs14434	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1818788	0.89[ASN][1000 genomes]
rs1915942	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1915943	0.89[ASN][1000 genomes]
rs2049229	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2090916	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2868945	0.80[EUR][1000 genomes]
rs2868946	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2868947	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4681631	0.83[EUR][1000 genomes]
rs6440683	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6440684	0.84[ASN][1000 genomes]
rs6440685	0.81[AFR][1000 genomes]
rs6764672	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6779448	0.90[AFR][1000 genomes]
rs6787881	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6790726	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7374917	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628889	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7631671	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7638500	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7642917	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8052	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9289820	0.84[ASN][1000 genomes]
rs9289821	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs954068	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9809820	0.87[ASN][1000 genomes]
rs9819287	0.89[ASN][1000 genomes]
rs9820529	0.81[ASN][1000 genomes]
rs9836797	0.85[ASN][1000 genomes]
rs9865177	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9871517	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs9289818	EIF2A	cis	Nerve Tibial	GTEx
rs9289818	EIF2A	cis	Artery Aorta	GTEx
rs9289818	EIF2A	cis	Adipose Subcutaneous	GTEx
rs9289818	EIF2A	cis	Thyroid	GTEx
rs9289818	EIF2A	cis	Esophagus Muscularis	GTEx
rs9289818	EIF2A	cis	Artery Tibial	GTEx
rs9289818	EIF2A	cis	lung	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:150295600-150318600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:150300800-150316200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:150301600-150320200	Weak transcription	Small Intestine	intestine
6	chr3:150302400-150320000	Weak transcription	Brain Germinal Matrix	brain
7	chr3:150303000-150316400	Weak transcription	HUVEC	blood vessel
8	chr3:150303400-150316800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:150303600-150315600	Weak transcription	HMEC	breast
10	chr3:150303600-150317400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:150303600-150319200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:150303800-150315600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr3:150303800-150316200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:150303800-150316400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:150303800-150316400	Weak transcription	NH-A	brain
16	chr3:150303800-150316800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:150303800-150316800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:150303800-150316800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:150303800-150317200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:150303800-150317400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:150303800-150318000	Weak transcription	NHLF	lung
22	chr3:150303800-150318800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:150303800-150318800	Weak transcription	Fetal Lung	lung
24	chr3:150303800-150320000	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:150303800-150320000	Weak transcription	Fetal Brain Female	brain
26	chr3:150303800-150320000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:150303800-150320800	Weak transcription	Lung	lung
28	chr3:150303800-150320800	Weak transcription	Spleen	Spleen
29	chr3:150304000-150316600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:150304000-150316600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:150304000-150316800	Weak transcription	Brain Anterior Caudate	brain
32	chr3:150304000-150320000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:150304000-150320000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:150304000-150320000	Weak transcription	Fetal Stomach	stomach
35	chr3:150304000-150320600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:150304400-150316400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:150304400-150317600	Weak transcription	HepG2	liver
38	chr3:150304400-150320000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr3:150304400-150320200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr3:150304400-150320600	Weak transcription	Ovary	ovary
41	chr3:150304600-150315600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr3:150304600-150316400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:150304600-150318600	Weak transcription	Fetal Muscle Leg	muscle
44	chr3:150304800-150315600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:150304800-150315600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:150304800-150316200	Weak transcription	HSMM	muscle
47	chr3:150304800-150320400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr3:150305000-150316600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:150305000-150316800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:150305000-150317000	Weak transcription	Right Atrium	heart

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