Variant report

Variant	rs364482
Chromosome Location	chr1:45451477-45451478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45451325..45453836-chr1:45473269..45474967,2	MCF-7	breast:
2	chr1:45451300..45453679-chr1:45476530..45479236,3	MCF-7	breast:
3	chr1:45424939..45427483-chr1:45450541..45452158,2	K562	blood:
4	chr1:45450854..45457330-chr1:45465047..45472849,14	K562	blood:
5	chr1:45443941..45446548-chr1:45450111..45452073,2	K562	blood:
6	chr1:45449901..45454181-chr1:45475970..45480540,16	K562	blood:
7	chr1:45283976..45287622-chr1:45450715..45458034,11	K562	blood:
8	chr1:45450629..45452184-chr1:45572673..45575146,2	K562	blood:
9	chr1:45284059..45286396-chr1:45450000..45452623,4	MCF-7	breast:
10	chr1:45282917..45288387-chr1:45449365..45456835,12	K562	blood:
11	chr1:45239905..45242727-chr1:45449975..45452356,2	K562	blood:
12	chr1:45450947..45453129-chr1:45770139..45772507,2	K562	blood:
13	chr1:45271433..45273539-chr1:45450490..45453055,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225721	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000264294	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10890316	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10890317	0.93[ASN][1000 genomes]
rs10890318	0.93[ASN][1000 genomes]
rs11211038	0.85[CHD][hapmap]
rs11211040	0.85[CHD][hapmap]
rs11211059	0.92[ASN][1000 genomes]
rs11211060	0.94[ASN][1000 genomes]
rs11211066	0.89[CHD][hapmap]
rs11211067	0.85[CHB][hapmap]
rs11556200	0.90[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap];0.83[YRI][hapmap];0.94[ASN][1000 genomes]
rs11573562	0.84[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap]
rs11576875	0.94[ASN][1000 genomes]
rs11584440	0.85[CHD][hapmap]
rs11586398	0.89[ASN][1000 genomes]
rs11588468	0.86[ASN][1000 genomes]
rs11802780	0.94[ASN][1000 genomes]
rs11806079	0.94[ASN][1000 genomes]
rs11811656	0.83[ASN][1000 genomes]
rs12070692	0.94[ASN][1000 genomes]
rs12082902	0.90[ASN][1000 genomes]
rs12117191	0.83[ASN][1000 genomes]
rs12117432	0.86[ASN][1000 genomes]
rs12122911	0.90[ASN][1000 genomes]
rs12122946	0.92[ASN][1000 genomes]
rs12125188	0.94[ASN][1000 genomes]
rs12125367	0.90[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs12126314	0.90[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs12126318	0.90[CHB][hapmap];0.96[CHD][hapmap];0.84[JPT][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.93[ASN][1000 genomes]
rs12127012	0.89[ASN][1000 genomes]
rs12127100	0.86[ASN][1000 genomes]
rs12127262	0.86[ASN][1000 genomes]
rs12133015	0.90[ASN][1000 genomes]
rs12139143	0.84[CHB][hapmap];0.96[CHD][hapmap]
rs12142881	0.90[ASN][1000 genomes]
rs12144152	0.81[ASN][1000 genomes]
rs1226360	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1226361	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12724852	0.92[ASN][1000 genomes]
rs12725055	0.86[ASN][1000 genomes]
rs12732402	0.94[ASN][1000 genomes]
rs12735637	0.90[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs12738406	0.94[ASN][1000 genomes]
rs12738542	0.89[CHB][hapmap];0.83[JPT][hapmap];0.94[ASN][1000 genomes]
rs12738586	0.81[ASN][1000 genomes]
rs12740561	0.86[ASN][1000 genomes]
rs12742371	0.85[ASN][1000 genomes]
rs12749130	0.90[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs12750107	0.93[ASN][1000 genomes]
rs12755554	0.90[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs12758547	0.86[ASN][1000 genomes]
rs13948	0.89[CHD][hapmap]
rs16832263	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs17393404	0.94[ASN][1000 genomes]
rs17881698	0.85[CHD][hapmap]
rs17883049	0.82[CHD][hapmap]
rs183809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2133503	0.86[ASN][1000 genomes]
rs2236576	0.89[CHD][hapmap]
rs2295997	0.82[CHD][hapmap]
rs2487367	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs263988	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs263989	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs263991	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs263992	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs263994	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs263996	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs263997	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs264020	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs264021	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs264022	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs264023	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs264024	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs264025	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs28409260	0.94[ASN][1000 genomes]
rs3806405	0.89[CHD][hapmap];0.91[MEX][hapmap]
rs4399199	0.90[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.85[LWK][hapmap];0.82[MEX][hapmap];0.93[ASN][1000 genomes]
rs544144	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs566063	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56875328	0.94[ASN][1000 genomes]
rs656780	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6659033	0.93[ASN][1000 genomes]
rs6659777	0.91[ASN][1000 genomes]
rs6676749	0.85[CHD][hapmap]
rs6678726	0.85[CHD][hapmap]
rs6678762	0.94[ASN][1000 genomes]
rs6678769	0.94[ASN][1000 genomes]
rs6692713	0.90[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs6703452	0.84[CHB][hapmap];0.96[CHD][hapmap]
rs67863058	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs68175913	0.86[ASN][1000 genomes]
rs7517439	0.96[CHD][hapmap]
rs7517639	0.83[CHB][hapmap]
rs7519454	0.92[ASN][1000 genomes]
rs7525733	0.89[CHD][hapmap]
rs7535347	0.89[CHD][hapmap];0.91[MEX][hapmap]
rs7541207	0.89[CHD][hapmap]
rs7553658	0.90[CHB][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs8681	0.89[CHD][hapmap];0.90[MEX][hapmap]
rs998418	0.85[CHB][hapmap];0.89[CHD][hapmap];0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	esv2830314	chr1:45430218-45455285	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs364482	EIF2B3	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45450600-45451600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:45450800-45451600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:45450800-45451600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:45450800-45451600	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr1:45450800-45451600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
6	chr1:45450800-45451600	Enhancers	Small Intestine	intestine
7	chr1:45450800-45451600	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr1:45450800-45451800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:45450800-45451800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:45450800-45451800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:45450800-45451800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr1:45450800-45451800	Flanking Active TSS	Dnd41	blood
13	chr1:45450800-45452200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr1:45451000-45451600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:45451000-45451600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr1:45451000-45451600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr1:45451000-45451600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:45451000-45451600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:45451000-45451600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:45451000-45451600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:45451000-45451600	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr1:45451000-45451600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:45451000-45451600	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr1:45451000-45451600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr1:45451000-45451600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:45451000-45451600	Flanking Active TSS	Psoas Muscle	Psoas
27	chr1:45451000-45451600	Flanking Active TSS	Right Atrium	heart
28	chr1:45451000-45451600	Flanking Active TSS	Right Ventricle	heart
29	chr1:45451000-45451600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr1:45451000-45451600	Flanking Active TSS	HMEC	breast
31	chr1:45451000-45451600	Flanking Active TSS	HSMM	muscle
32	chr1:45451000-45451600	Flanking Active TSS	NHEK	skin
33	chr1:45451000-45451800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:45451000-45451800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr1:45451000-45451800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:45451000-45451800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr1:45451000-45451800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr1:45451000-45451800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:45451000-45451800	Flanking Active TSS	Liver	Liver
40	chr1:45451000-45451800	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr1:45451000-45451800	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr1:45451000-45451800	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr1:45451000-45451800	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr1:45451000-45451800	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr1:45451000-45451800	Flanking Active TSS	Fetal Brain Male	brain
46	chr1:45451000-45451800	Flanking Active TSS	Fetal Brain Female	brain
47	chr1:45451000-45451800	Flanking Active TSS	Fetal Lung	lung
48	chr1:45451000-45451800	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr1:45451000-45451800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr1:45451000-45451800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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