Variant report

Variant	rs9827736
Chromosome Location	chr3:150101349-150101350
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150093950..150095964-chr3:150101199..150103384,2	K562	blood:
2	chr3:150101054..150103942-chr3:150125603..150131015,6	K562	blood:
3	chr3:150100256..150103024-chr3:150133786..150136650,2	K562	blood:
4	chr3:150093390..150097610-chr3:150100766..150105118,7	MCF-7	breast:
5	chr3:150101273..150104730-chr3:150121434..150128062,8	K562	blood:
6	chr3:150098184..150100046-chr3:150100500..150103295,2	K562	blood:
7	chr3:150100542..150102255-chr3:150102482..150105071,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196428	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10513368	0.82[ASN][1000 genomes]
rs10513369	0.86[ASN][1000 genomes]
rs10513370	0.86[ASN][1000 genomes]
rs10513371	0.86[ASN][1000 genomes]
rs10513372	0.82[ASN][1000 genomes]
rs10513375	0.82[ASN][1000 genomes]
rs11713072	0.86[ASN][1000 genomes]
rs11928577	0.82[ASN][1000 genomes]
rs11928948	0.82[ASN][1000 genomes]
rs13066114	0.86[ASN][1000 genomes]
rs13068946	0.86[ASN][1000 genomes]
rs13073230	0.89[ASN][1000 genomes]
rs13076419	0.82[ASN][1000 genomes]
rs13084712	0.82[ASN][1000 genomes]
rs13317818	0.93[ASN][1000 genomes]
rs1376027	0.82[ASN][1000 genomes]
rs17278131	0.96[ASN][1000 genomes]
rs28571974	0.82[ASN][1000 genomes]
rs28587291	0.93[ASN][1000 genomes]
rs2868430	0.86[ASN][1000 genomes]
rs34106738	0.82[ASN][1000 genomes]
rs34156311	0.89[ASN][1000 genomes]
rs34419133	0.82[ASN][1000 genomes]
rs34503712	0.82[ASN][1000 genomes]
rs34647320	0.86[ASN][1000 genomes]
rs34983941	0.82[ASN][1000 genomes]
rs35234277	0.93[ASN][1000 genomes]
rs3749400	0.86[ASN][1000 genomes]
rs3811719	0.93[ASN][1000 genomes]
rs61734437	0.86[ASN][1000 genomes]
rs66816665	0.86[ASN][1000 genomes]
rs67073112	0.86[ASN][1000 genomes]
rs6791546	0.86[ASN][1000 genomes]
rs6799106	0.86[ASN][1000 genomes]
rs6799981	0.86[ASN][1000 genomes]
rs73165716	0.82[ASN][1000 genomes]
rs7614772	0.86[ASN][1000 genomes]
rs7618493	0.93[ASN][1000 genomes]
rs7620193	0.93[ASN][1000 genomes]
rs7621019	0.93[ASN][1000 genomes]
rs7623100	0.82[ASN][1000 genomes]
rs9844735	0.93[ASN][1000 genomes]
rs9875752	0.93[ASN][1000 genomes]
rs9879140	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9827736	EIF2A	cis	Artery Tibial	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150086200-150102200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
3	chr3:150090800-150107000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:150090800-150108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:150090800-150111000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:150090800-150111000	Weak transcription	NHEK	skin
7	chr3:150091800-150101800	Weak transcription	Primary B cells from cord blood	blood
8	chr3:150094600-150102400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:150094600-150102600	Weak transcription	Left Ventricle	heart
10	chr3:150094600-150106200	Weak transcription	HSMM	muscle
11	chr3:150094600-150108800	Weak transcription	NHLF	lung
12	chr3:150094800-150101800	Weak transcription	K562	blood
13	chr3:150094800-150102200	Weak transcription	Fetal Intestine Large	intestine
14	chr3:150094800-150108200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:150096000-150105200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:150096200-150108400	Weak transcription	A549	lung
17	chr3:150097600-150102800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:150097600-150103400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:150097800-150102400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:150097800-150102800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:150097800-150111200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:150098000-150102200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:150098000-150102400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:150098000-150102400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr3:150098000-150102400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:150098000-150102600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:150098000-150102800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:150100200-150102200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr3:150100200-150102600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:150100400-150102200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr3:150100400-150102200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:150100400-150102600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:150100600-150102200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:150100600-150102200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:150101000-150102000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:150101200-150101800	Enhancers	GM12878-XiMat	blood
37	chr3:150101200-150102000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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