Variant report

Variant	rs62271395
Chromosome Location	chr3:150106428-150106429
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150106073..150107680-chr3:150109280..150112020,2	MCF-7	breast:
2	chr3:150103838..150106691-chr3:150117880..150119518,2	MCF-7	breast:
3	chr3:150105305..150107998-chr3:150123098..150125972,3	K562	blood:
4	chr3:150101451..150104370-chr3:150105337..150109927,7	K562	blood:
5	chr3:150105059..150107937-chr3:150115799..150117722,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
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]
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]
rs6767155	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614962	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7616723	1.00[ASN][1000 genomes]
rs7617025	1.00[ASN][1000 genomes]
rs7617699	1.00[ASN][1000 genomes]
rs7636643	1.00[ASN][1000 genomes]
rs9810244	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9844972	0.83[AMR][1000 genomes]
rs9862778	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62271395	EIF2A	cis	Artery Tibial	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150090800-150107000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:150090800-150108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:150090800-150111000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:150090800-150111000	Weak transcription	NHEK	skin
6	chr3:150094600-150108800	Weak transcription	NHLF	lung
7	chr3:150094800-150108200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:150096200-150108400	Weak transcription	A549	lung
9	chr3:150097800-150111200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:150102800-150111400	Weak transcription	Fetal Intestine Large	intestine
11	chr3:150102800-150118200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:150103200-150106800	Weak transcription	Fetal Heart	heart
13	chr3:150103600-150106800	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:150103600-150112200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:150103800-150107400	Weak transcription	Thymus	Thymus
16	chr3:150103800-150107600	Weak transcription	Hela-S3	cervix
17	chr3:150103800-150107800	Weak transcription	Primary T cells from cord blood	blood
18	chr3:150103800-150108000	Weak transcription	Fetal Thymus	thymus
19	chr3:150103800-150108200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:150103800-150108800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:150103800-150109000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:150103800-150109600	Weak transcription	K562	blood
23	chr3:150105400-150108800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:150105600-150107400	Weak transcription	GM12878-XiMat	blood
25	chr3:150105600-150107600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:150105800-150107600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:150105800-150107600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:150105800-150109800	Enhancers	HUVEC	blood vessel
29	chr3:150106000-150108600	Enhancers	Osteobl	bone
30	chr3:150106000-150109600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:150106200-150106600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:150106200-150107000	Enhancers	NH-A	brain
33	chr3:150106200-150107400	Enhancers	HSMM	muscle
34	chr3:150106200-150107800	Enhancers	HSMMtube	muscle
35	chr3:150106200-150109000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:150106400-150109600	Enhancers	NHDF-Ad	bronchial

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