Variant report

Variant	rs9810244
Chromosome Location	chr3:150138211-150138212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:150135087-150138468	K562	blood:	n/a	n/a
2	POLR2A	chr3:150138208-150138234	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:150086902..150089689-chr3:150137707..150139758,2	MCF-7	breast:
2	chr3:149956495..149958158-chr3:150137988..150139629,2	MCF-7	breast:
3	chr3:150134899..150136679-chr3:150137562..150139549,2	MCF-7	breast:
4	chr3:150091318..150093525-chr3:150137664..150139823,2	K562	blood:

Variant related genes	Relation type
TSC22D2	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13317818	0.81[EUR][1000 genomes]
rs1597466	1.00[ASN][1000 genomes]
rs1597467	1.00[ASN][1000 genomes]
rs16862607	1.00[ASN][1000 genomes]
rs16862610	1.00[ASN][1000 genomes]
rs2060662	1.00[ASN][1000 genomes]
rs28454055	1.00[ASN][1000 genomes]
rs3811719	0.81[EUR][1000 genomes]
rs4301033	1.00[ASN][1000 genomes]
rs59195912	1.00[ASN][1000 genomes]
rs61217677	1.00[ASN][1000 genomes]
rs62269236	1.00[ASN][1000 genomes]
rs62271363	1.00[ASN][1000 genomes]
rs62271364	1.00[ASN][1000 genomes]
rs62271368	1.00[ASN][1000 genomes]
rs62271373	0.93[AMR][1000 genomes]
rs62271395	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767155	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614962	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7616723	1.00[ASN][1000 genomes]
rs7617025	1.00[ASN][1000 genomes]
rs7617699	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7618493	0.81[EUR][1000 genomes]
rs7636643	1.00[ASN][1000 genomes]
rs9844735	0.81[EUR][1000 genomes]
rs9844972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9862778	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9879140	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1799287	chr3:150125721-150147118	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9810244	EIF2A	cis	Artery Tibial	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150131000-150138600	Weak transcription	Lung	lung
2	chr3:150131000-150152000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:150131000-150166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:150131200-150138600	Enhancers	Colon Smooth Muscle	Colon
5	chr3:150131400-150138600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:150132200-150140600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:150132400-150139200	Weak transcription	Fetal Stomach	stomach
8	chr3:150132400-150146000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:150132400-150151400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:150132400-150151600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:150132400-150159200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:150132400-150160400	Weak transcription	Pancreas	Pancrea
13	chr3:150132400-150175000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr3:150132400-150175000	Weak transcription	Placenta	Placenta
15	chr3:150132600-150145200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:150132800-150145800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:150132800-150145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:150132800-150151000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr3:150133000-150139800	Weak transcription	Fetal Kidney	kidney
20	chr3:150133600-150139600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:150133600-150139800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:150133600-150151000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr3:150133600-150159200	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:150133600-150159200	Weak transcription	Left Ventricle	heart
25	chr3:150133800-150159200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:150134000-150138600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:150134000-150143000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr3:150134000-150143800	Weak transcription	Aorta	Aorta
29	chr3:150134000-150146000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:150134000-150147000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:150134000-150159200	Weak transcription	Thymus	Thymus
32	chr3:150134200-150139200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:150134200-150140800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:150134400-150138600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:150134400-150139200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr3:150134600-150146000	Weak transcription	Stomach Mucosa	stomach
37	chr3:150134600-150174800	Weak transcription	Dnd41	blood
38	chr3:150134800-150139800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr3:150135000-150139200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:150135000-150175600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr3:150135200-150138400	Enhancers	Liver	Liver
42	chr3:150135600-150145600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:150135800-150138400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:150136000-150138400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr3:150136000-150140800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:150136000-150144000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr3:150136000-150145800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr3:150136000-150160800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:150136200-150139600	Weak transcription	Ovary	ovary
50	chr3:150136200-150139800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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