Variant report

Variant	rs2049229
Chromosome Location	chr3:150307873-150307874
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150306459..150312213-chr3:150319876..150323400,9	MCF-7	breast:
2	chr3:150296057..150298158-chr3:150306282..150308103,2	K562	blood:
3	chr3:150285798..150288791-chr3:150307278..150309481,2	K562	blood:

Variant related genes	Relation type
ENSG00000198843	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000144895	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1133494	0.94[ASW][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13071114	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs13097283	0.96[YRI][hapmap]
rs14434	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1464517	0.88[CEU][hapmap];0.81[LWK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.93[EUR][1000 genomes]
rs16862785	0.85[YRI][hapmap]
rs1818788	0.89[ASN][1000 genomes]
rs1915942	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1915943	0.90[CHB][hapmap];0.82[JPT][hapmap];0.83[LWK][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2090916	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs2204112	0.82[EUR][1000 genomes]
rs2868946	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2868947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440683	1.00[ASN][1000 genomes]
rs6440684	0.84[ASN][1000 genomes]
rs6764672	0.87[ASN][1000 genomes]
rs6787881	0.80[AFR][1000 genomes]
rs6790726	0.91[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6798173	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6801796	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7374917	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7433606	0.80[LWK][hapmap];0.89[YRI][hapmap]
rs7628889	1.00[ASN][1000 genomes]
rs7631671	0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs7638500	0.94[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.92[LWK][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7642917	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs9289818	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9289820	0.84[ASN][1000 genomes]
rs9289821	0.89[ASN][1000 genomes]
rs954068	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9809820	0.90[CHB][hapmap];0.82[JPT][hapmap];0.83[LWK][hapmap];0.85[YRI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9819287	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9820529	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9836797	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9865177	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9871517	0.88[ASN][1000 genomes]
rs9874800	0.93[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2049229	EIF2A	cis	Artery Tibial	GTEx

Chromatin state (count:96 , 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	chr3:150294200-150314600	Weak transcription	Psoas Muscle	Psoas
4	chr3:150295600-150318600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:150300800-150316200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:150301600-150320200	Weak transcription	Small Intestine	intestine
7	chr3:150302400-150320000	Weak transcription	Brain Germinal Matrix	brain
8	chr3:150303000-150316400	Weak transcription	HUVEC	blood vessel
9	chr3:150303400-150316800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:150303600-150308000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr3:150303600-150308000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:150303600-150310400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:150303600-150315600	Weak transcription	HMEC	breast
14	chr3:150303600-150317400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:150303600-150319200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:150303800-150308000	Weak transcription	Aorta	Aorta
17	chr3:150303800-150308600	Weak transcription	Adipose Nuclei	Adipose
18	chr3:150303800-150308800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr3:150303800-150309400	Weak transcription	Esophagus	oesophagus
20	chr3:150303800-150310000	Weak transcription	Osteobl	bone
21	chr3:150303800-150310600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:150303800-150313800	Weak transcription	Pancreas	Pancrea
23	chr3:150303800-150315600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:150303800-150316200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:150303800-150316400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:150303800-150316400	Weak transcription	NH-A	brain
27	chr3:150303800-150316800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr3:150303800-150316800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:150303800-150316800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:150303800-150317200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:150303800-150317400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:150303800-150318000	Weak transcription	NHLF	lung
33	chr3:150303800-150318800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:150303800-150318800	Weak transcription	Fetal Lung	lung
35	chr3:150303800-150320000	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:150303800-150320000	Weak transcription	Fetal Brain Female	brain
37	chr3:150303800-150320000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr3:150303800-150320800	Weak transcription	Lung	lung
39	chr3:150303800-150320800	Weak transcription	Spleen	Spleen
40	chr3:150304000-150308000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:150304000-150308800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:150304000-150316600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr3:150304000-150316600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:150304000-150316800	Weak transcription	Brain Anterior Caudate	brain
45	chr3:150304000-150320000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr3:150304000-150320000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr3:150304000-150320000	Weak transcription	Fetal Stomach	stomach
48	chr3:150304000-150320600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:150304400-150309200	Weak transcription	Liver	Liver
50	chr3:150304400-150316400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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