Variant report

Variant	rs11070245
Chromosome Location	chr15:40317792-40317793
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40314138..40317117-chr15:40317356..40320550,4	K562	blood:
2	chr15:40316792..40319145-chr15:40336585..40338898,2	K562	blood:
3	chr15:40317457..40319484-chr15:40324192..40326338,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11629850	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12591842	0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs12592831	0.85[CEU][hapmap]
rs2412464	0.85[CEU][hapmap]
rs3736290	0.96[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3816900	0.88[CEU][hapmap]

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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11070245	EIF2AK4	Cis_1M	lymphoblastoid	RTeQTL
rs11070245	SRP14	cis	parietal	SCAN
rs11070245	EIF2AK4	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:40296400-40325200	Weak transcription	Hela-S3	cervix
3	chr15:40301000-40322000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr15:40303000-40329600	Strong transcription	Liver	Liver
5	chr15:40303800-40320600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:40305200-40330200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:40306800-40319200	Strong transcription	Fetal Intestine Large	intestine
8	chr15:40306800-40319600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:40306800-40328800	Weak transcription	Stomach Mucosa	stomach
10	chr15:40306800-40329800	Strong transcription	Osteobl	bone
11	chr15:40307000-40318600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:40307000-40329000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:40307000-40329400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:40307200-40329600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:40307400-40326800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:40307400-40329600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:40307600-40319000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:40307600-40326200	Strong transcription	HSMM	muscle
19	chr15:40307600-40329200	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr15:40307600-40329200	Strong transcription	HMEC	breast
21	chr15:40307800-40329600	Strong transcription	NH-A	brain
22	chr15:40307800-40330000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:40308000-40329000	Strong transcription	HepG2	liver
24	chr15:40308000-40329600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr15:40308000-40329800	Strong transcription	NHDF-Ad	bronchial
26	chr15:40308000-40330000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr15:40308200-40318200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr15:40308200-40319000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:40308200-40329600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr15:40308600-40328800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:40308600-40330000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:40308800-40330000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:40309000-40318800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:40309200-40329600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:40310000-40326400	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr15:40310000-40329200	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:40310000-40329400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:40310000-40330000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr15:40310400-40319000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr15:40310600-40318600	Strong transcription	Left Ventricle	heart
41	chr15:40310600-40319000	Strong transcription	Primary T cells from cord blood	blood
42	chr15:40310600-40319000	Strong transcription	Brain Anterior Caudate	brain
43	chr15:40310600-40319200	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr15:40310600-40319600	Strong transcription	Fetal Lung	lung
45	chr15:40310600-40328800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr15:40310600-40329800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr15:40310600-40330000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr15:40310600-40330000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr15:40311000-40318200	Strong transcription	A549	lung
50	chr15:40311000-40318600	Strong transcription	Fetal Thymus	thymus

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