Variant report

Variant	rs2868945
Chromosome Location	chr3:150322418-150322419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:150319971-150322484	SK-N-SH	brain:	n/a	n/a
2	HCFC1	chr3:150320201-150322492	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr3:150320381-150322542	GM12878	blood:	n/a	n/a
4	CHD1	chr3:150320137-150322461	IMR90	lung:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150262614..150266370-chr3:150321478..150325578,8	K562	blood:
2	chr3:150260773..150268334-chr3:150317152..150324883,17	K562	blood:
3	chr3:150320987..150322498-chr3:150342766..150344939,2	K562	blood:
4	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
5	chr3:150270043..150272034-chr3:150320453..150322799,2	MCF-7	breast:
6	chr3:150319300..150322608-chr3:150420316..150423261,6	MCF-7	breast:
7	chr3:150320056..150325236-chr3:150328045..150333634,6	MCF-7	breast:
8	chr3:150320682..150323367-chr3:150434983..150438728,4	MCF-7	breast:
9	chr3:150319130..150324790-chr3:150327939..150333389,12	K562	blood:
10	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
11	chr3:150320885..150322876-chr3:150438158..150440375,2	K562	blood:
12	chr3:150259884..150269236-chr3:150319275..150325391,10	MCF-7	breast:
13	chr3:150291427..150293718-chr3:150321291..150323523,2	MCF-7	breast:
14	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
15	chr3:150320068..150322587-chr3:150419780..150423653,7	MCF-7	breast:
16	chr3:150262524..150267011-chr3:150319982..150323189,4	MCF-7	breast:
17	chr3:150298264..150303206-chr3:150320117..150322472,5	MCF-7	breast:
18	chr3:150320651..150322535-chr3:150420731..150422273,2	K562	blood:
19	chr3:150319883..150326696-chr3:150327224..150333205,16	MCF-7	breast:
20	chr3:150321297..150323112-chr3:150338077..150339606,2	MCF-7	breast:

No data

Variant related genes	Relation type
SERP1	TF binding region
ENSG00000271711	Chromatin interaction
ENSG00000244668	Chromatin interaction
ENSG00000240137	Chromatin interaction
ENSG00000244265	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000198843	Chromatin interaction
ENSG00000120742	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13071114	0.87[CEU][hapmap]
rs1818788	0.88[EUR][1000 genomes]
rs1915942	0.95[EUR][1000 genomes]
rs4681631	0.82[AMR][1000 genomes]
rs6790726	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs7374917	0.84[EUR][1000 genomes]
rs8052	0.87[CEU][hapmap]
rs9289818	0.80[EUR][1000 genomes]
rs9289821	0.97[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs954068	0.82[EUR][1000 genomes]
rs9858682	0.81[EUR][1000 genomes]
rs9865177	0.95[EUR][1000 genomes]
rs9871517	0.82[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2868945	EIF2A	cis	Thyroid	GTEx
rs2868945	TM4SF4	cis	parietal	SCAN
rs2868945	EIF2A	cis	Esophagus Muscularis	GTEx
rs2868945	COMMD2	cis	cerebellum	SCAN
rs2868945	EIF2A	cis	Artery Tibial	GTEx
rs2868945	EIF2A	cis	normal skin	skin_eQTL
rs2868945	EIF2A	cis	lung	GTEx
rs2868945	EIF2A	cis	Artery Aorta	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150318600-150323600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr3:150318600-150323600	Active TSS	K562	blood
3	chr3:150318800-150323600	Active TSS	GM12878-XiMat	blood
4	chr3:150319200-150322800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:150319400-150323200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:150320000-150322600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:150320000-150322600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:150320000-150322600	Active TSS	Stomach Smooth Muscle	stomach
9	chr3:150320000-150322600	Active TSS	NHEK	skin
10	chr3:150320000-150322800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr3:150320000-150322800	Active TSS	Hela-S3	cervix
12	chr3:150320000-150323000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:150320000-150323000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr3:150320000-150323000	Active TSS	NHLF	lung
15	chr3:150320000-150323200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:150320000-150323600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr3:150320000-150323800	Active TSS	A549	lung
18	chr3:150320000-150324000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr3:150320200-150322600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:150320200-150322600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:150320200-150322800	Active TSS	Right Ventricle	heart
22	chr3:150320200-150323000	Active TSS	HepG2	liver
23	chr3:150320200-150323000	Active TSS	HMEC	breast
24	chr3:150320200-150323600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:150320400-150322600	Active TSS	NHDF-Ad	bronchial
26	chr3:150320400-150323000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:150320400-150323000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:150320600-150322800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:150320600-150322800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:150320800-150322600	Active TSS	Placenta	Placenta
31	chr3:150320800-150322800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr3:150320800-150322800	Active TSS	HSMM	muscle
33	chr3:150320800-150323000	Active TSS	NH-A	brain
34	chr3:150321000-150322600	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr3:150321000-150322800	Active TSS	Duodenum Mucosa	Duodenum
36	chr3:150321000-150323000	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr3:150321600-150324400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:150321800-150322600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr3:150321800-150322600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:150321800-150322600	Flanking Active TSS	HUVEC	blood vessel
41	chr3:150321800-150323000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr3:150321800-150323000	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr3:150321800-150323000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:150322000-150322600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr3:150322000-150323000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr3:150322000-150323000	Flanking Active TSS	Osteobl	bone
47	chr3:150322000-150323200	Flanking Active TSS	Dnd41	blood
48	chr3:150322000-150324400	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr3:150322000-150325200	Weak transcription	Spleen	Spleen
50	chr3:150322200-150322600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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