Variant report

Variant	rs2906502
Chromosome Location	chr7:5943210-5943211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12334093	0.88[CEU][hapmap]
rs1860459	1.00[CEU][hapmap]
rs2024002	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2952939	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3094962	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
2	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
3	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
5	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
6	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
7	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
8	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv887420	chr7:5801820-5963545	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
11	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
12	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
13	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
14	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
15	nsv830892	chr7:5842044-5995489	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv433017	chr7:5853557-6045391	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1024675	chr7:5868561-5965441	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1017061	chr7:5885326-6026706	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1031583	chr7:5889011-5970922	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv830894	chr7:5889658-6072215	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
21	nsv1026461	chr7:5891977-5970922	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv981428	chr7:5899882-5954957	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv1834433	chr7:5930582-5953089	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
24	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
25	esv274969	chr7:5936888-5965441	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
26	esv1840621	chr7:5939594-5953089	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
27	esv2421482	chr7:5940039-5950934	Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2906502	EIF2AK1	cis	cerebellum	SCAN
rs2906502	EIF2AK1	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5935200-5951600	Weak transcription	HMEC	breast
2	chr7:5937600-5948600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:5938000-5950600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:5938200-5943400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:5938200-5944400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:5938200-5944400	Weak transcription	Brain Anterior Caudate	brain
7	chr7:5938200-5949400	Weak transcription	Brain Substantia Nigra	brain
8	chr7:5938200-5949600	Weak transcription	HUVEC	blood vessel
9	chr7:5938200-5950600	Weak transcription	Colonic Mucosa	Colon
10	chr7:5938200-5952200	Weak transcription	NHDF-Ad	bronchial
11	chr7:5938200-5952400	Weak transcription	GM12878-XiMat	blood
12	chr7:5938200-5952600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:5938200-5955600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:5938200-5962800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:5938200-5963400	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:5938200-5969400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:5938400-5943400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:5938400-5943800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:5938400-5945600	Weak transcription	Placenta	Placenta
20	chr7:5938400-5945800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:5938400-5946000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:5938400-5946000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:5938400-5949600	Weak transcription	Esophagus	oesophagus
24	chr7:5938400-5949600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:5938400-5949600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:5938400-5950600	Weak transcription	Osteobl	bone
27	chr7:5938400-5950800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:5938400-5952200	Weak transcription	HepG2	liver
29	chr7:5938400-5952400	Weak transcription	Primary B cells from cord blood	blood
30	chr7:5938400-5952400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:5938400-5955600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:5938400-5955600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:5938400-5957800	Weak transcription	Aorta	Aorta
34	chr7:5938400-5963600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:5938400-5966600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:5938400-5966800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:5938400-5966800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:5938400-5967800	Weak transcription	HSMMtube	muscle
39	chr7:5938400-5971000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:5938400-5971400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:5938400-5972600	Weak transcription	Fetal Brain Female	brain
42	chr7:5938600-5943800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:5938600-5950600	Weak transcription	Right Ventricle	heart
44	chr7:5938600-5962400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:5939400-5945600	Weak transcription	NHEK	skin
46	chr7:5939400-5945800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:5939600-5944000	Weak transcription	Primary T cells from cord blood	blood
48	chr7:5939600-5946000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:5939600-5946000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:5939600-5946200	Weak transcription	Monocytes-CD14+_RO01746	blood

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