Variant report

Variant	rs13071114
Chromosome Location	chr3:150270822-150270823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150270755..150273532-chr3:150480304..150482430,2	MCF-7	breast:
2	chr3:150264211..150267828-chr3:150269131..150272633,7	MCF-7	breast:
3	chr3:150270043..150272034-chr3:150320453..150322799,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181788	Chromatin interaction
ENSG00000198843	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000120742	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1133494	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs16862785	0.85[YRI][hapmap]
rs1915943	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2049229	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs2090916	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2204113	0.82[JPT][hapmap]
rs2868945	0.87[CEU][hapmap]
rs6440685	1.00[YRI][hapmap]
rs6440688	0.96[YRI][hapmap]
rs6764672	0.82[AFR][1000 genomes]
rs6790726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs7631671	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7638500	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7642917	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs8052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs9809820	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs9871517	0.84[AFR][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs13071114	EIF2A	cis	lung	GTEx
rs13071114	EIF2A	cis	Artery Tibial	GTEx
rs13071114	EIF2A	cis	Thyroid	GTEx
rs13071114	EIF2A	cis	normal skin	skin_eQTL
rs13071114	EIF2A	cis	multi-tissue	Pritchard
rs13071114	EIF2A	cis	Esophagus Muscularis	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150265000-150272800	Weak transcription	Spleen	Spleen
2	chr3:150265200-150272800	Weak transcription	Lung	lung
3	chr3:150265200-150273200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:150265200-150299400	Weak transcription	Esophagus	oesophagus
5	chr3:150265200-150302800	Weak transcription	Gastric	stomach
6	chr3:150265400-150271200	Weak transcription	Ovary	ovary
7	chr3:150265400-150271600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:150265400-150279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:150265400-150305800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:150265600-150271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:150265600-150271200	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:150265600-150271600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:150265600-150272200	Weak transcription	Thymus	Thymus
14	chr3:150265600-150272400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:150265600-150272400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:150265600-150273600	Weak transcription	Right Atrium	heart
17	chr3:150265600-150284600	Weak transcription	Right Ventricle	heart
18	chr3:150265600-150293400	Weak transcription	Aorta	Aorta
19	chr3:150265600-150294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:150265600-150304200	Weak transcription	Fetal Brain Male	brain
21	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:150266000-150271400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:150266000-150271400	Weak transcription	HSMMtube	muscle
25	chr3:150266000-150271600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr3:150266000-150271600	Weak transcription	Fetal Kidney	kidney
27	chr3:150266000-150271600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:150266000-150273600	Weak transcription	Brain Substantia Nigra	brain
29	chr3:150266000-150273600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:150266000-150284400	Weak transcription	Brain Anterior Caudate	brain
31	chr3:150266000-150285000	Weak transcription	Colonic Mucosa	Colon
32	chr3:150266000-150304600	Weak transcription	Fetal Heart	heart
33	chr3:150266000-150307600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:150266200-150271200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:150266200-150271400	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:150266200-150277200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:150266200-150280800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:150266400-150271200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr3:150266400-150271400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:150266400-150271600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:150266400-150271800	Weak transcription	Small Intestine	intestine
42	chr3:150266400-150272400	Weak transcription	Colon Smooth Muscle	Colon
43	chr3:150266400-150273600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr3:150266400-150274000	Strong transcription	Primary T cells from cord blood	blood
45	chr3:150266400-150274600	Weak transcription	Stomach Mucosa	stomach
46	chr3:150266400-150293400	Weak transcription	Psoas Muscle	Psoas
47	chr3:150266400-150302200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:150266600-150271200	Weak transcription	Fetal Brain Female	brain
49	chr3:150266600-150273600	Strong transcription	K562	blood
50	chr3:150267200-150273600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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