Variant report

Variant	rs746762
Chromosome Location	chr11:36453247-36453248
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10768210	0.80[ASN][1000 genomes]
rs10836556	0.82[MEX][hapmap]
rs10836559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10836560	0.81[ASW][hapmap];0.85[CHB][hapmap];0.81[YRI][hapmap];0.80[ASN][1000 genomes]
rs10836561	0.81[ASW][hapmap];0.85[CHB][hapmap];0.81[YRI][hapmap];0.80[ASN][1000 genomes]
rs11033617	0.81[YRI][hapmap]
rs11033619	0.85[CHB][hapmap]
rs12223629	0.90[YRI][hapmap]
rs1863397	0.85[CHB][hapmap];0.81[YRI][hapmap];0.80[ASN][1000 genomes]
rs2422251	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs331446	0.87[CEU][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs577054	0.90[YRI][hapmap]
rs744895	0.87[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs744896	0.87[ASW][hapmap];0.87[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs750940	0.93[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs754005	0.93[ASW][hapmap];0.87[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.93[MEX][hapmap];0.80[MKK][hapmap];0.91[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7945831	0.87[ASW][hapmap];0.85[CHB][hapmap];0.81[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7951020	0.87[ASW][hapmap];0.81[YRI][hapmap]
rs7952013	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs746762	EIF3M	cis	cerebellum	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
3	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:36432000-36467800	Weak transcription	Esophagus	oesophagus
5	chr11:36433800-36471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:36435200-36453400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:36435200-36463200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:36442600-36462200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:36443800-36457400	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:36444000-36471400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:36444200-36471400	Weak transcription	Small Intestine	intestine
12	chr11:36447600-36471000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:36448400-36463800	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr11:36448400-36470600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:36448600-36470600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:36448600-36471000	Weak transcription	Fetal Thymus	thymus
17	chr11:36448600-36471000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr11:36448800-36463000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:36448800-36471400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:36449200-36453400	Weak transcription	Adipose Nuclei	Adipose
21	chr11:36449200-36467800	Weak transcription	Ovary	ovary
22	chr11:36449200-36469200	Weak transcription	Placenta	Placenta
23	chr11:36449200-36471400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:36449400-36457800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:36449400-36471200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr11:36449400-36471200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr11:36449600-36457000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:36449600-36463000	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:36449600-36467600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:36449600-36469000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:36449600-36474000	Weak transcription	Right Ventricle	heart
32	chr11:36449800-36454800	Weak transcription	Colonic Mucosa	Colon
33	chr11:36449800-36460400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:36449800-36463000	Weak transcription	Fetal Stomach	stomach
35	chr11:36449800-36463000	Weak transcription	Lung	lung
36	chr11:36450000-36468400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:36450200-36459000	Weak transcription	Gastric	stomach
38	chr11:36450200-36463400	Weak transcription	Brain Anterior Caudate	brain
39	chr11:36451200-36453600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:36451800-36454200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:36451800-36460600	Weak transcription	Pancreas	Pancrea
42	chr11:36452000-36454000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:36452000-36454000	Enhancers	Brain Substantia Nigra	brain
44	chr11:36452000-36454200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:36452200-36453600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr11:36452200-36454600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:36452400-36453400	Enhancers	Brain Angular Gyrus	brain
48	chr11:36452400-36453600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:36452400-36454200	Enhancers	Brain Cingulate Gyrus	brain
50	chr11:36452400-36454200	Enhancers	Brain Hippocampus Middle	brain

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