Variant report

Variant	rs7945309
Chromosome Location	chr11:9942432-9942433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs11608212	1.00[ASN][1000 genomes]
rs12098983	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274440	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17271223	1.00[ASN][1000 genomes]
rs17271623	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17272133	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17355751	1.00[ASN][1000 genomes]
rs17356069	1.00[ASN][1000 genomes]
rs17356237	1.00[ASN][1000 genomes]
rs17356369	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910071	1.00[ASN][1000 genomes]
rs4910084	1.00[YRI][hapmap]
rs55811615	1.00[ASN][1000 genomes]
rs56067762	1.00[ASN][1000 genomes]
rs61876910	1.00[ASN][1000 genomes]
rs61876915	1.00[ASN][1000 genomes]
rs61876922	1.00[ASN][1000 genomes]
rs61876923	1.00[ASN][1000 genomes]
rs61876926	1.00[ASN][1000 genomes]
rs61876927	1.00[ASN][1000 genomes]
rs61876942	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876945	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876948	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61876949	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876951	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876972	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876973	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876974	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876975	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876976	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876977	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876978	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876980	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876982	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876983	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876984	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877004	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877005	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877039	1.00[ASN][1000 genomes]
rs61877042	1.00[ASN][1000 genomes]
rs61877044	1.00[ASN][1000 genomes]
rs61877046	1.00[ASN][1000 genomes]
rs61877050	1.00[ASN][1000 genomes]
rs61877054	1.00[ASN][1000 genomes]
rs61878586	1.00[ASN][1000 genomes]
rs6483792	1.00[ASN][1000 genomes]
rs6483859	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66536570	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66553354	1.00[ASN][1000 genomes]
rs7108187	1.00[ASN][1000 genomes]
rs7109648	0.86[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs7110027	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117364	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118211	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7118427	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120403	0.86[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123546	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129274	1.00[ASN][1000 genomes]
rs7130478	1.00[ASN][1000 genomes]
rs7131546	1.00[ASN][1000 genomes]
rs72854502	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72855652	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72855680	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857108	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858820	1.00[ASN][1000 genomes]
rs72858863	1.00[ASN][1000 genomes]
rs72858902	1.00[ASN][1000 genomes]
rs7342224	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928664	1.00[ASN][1000 genomes]
rs7935235	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935610	1.00[ASN][1000 genomes]
rs7936602	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938570	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938773	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939096	1.00[ASN][1000 genomes]
rs7939269	1.00[ASN][1000 genomes]
rs7942807	1.00[ASN][1000 genomes]
rs7949110	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949493	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952455	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666488	0.87[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2762895	chr11:9849511-9954549	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv896988	chr11:9912052-10012511	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1041148	chr11:9927980-9954537	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv976477	chr11:9929222-9945590	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3520342	chr11:9937276-9942874	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3520343	chr11:9937276-9942874	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
8	nsv517092	chr11:9938545-9942432	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
9	nsv519992	chr11:9938545-9944824	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7945309	WEE1	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9878800-9952200	Weak transcription	Aorta	Aorta
2	chr11:9894400-9978600	Weak transcription	Left Ventricle	heart
3	chr11:9910000-9954600	Weak transcription	Pancreas	Pancrea
4	chr11:9916800-9944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:9916800-9944400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:9917600-9951800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:9917600-9952400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:9917800-9952600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:9923400-9943600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:9923400-9952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:9924000-9944400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:9925200-9944400	Weak transcription	Ovary	ovary
13	chr11:9925400-9951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:9925400-9952200	Weak transcription	Lung	lung
15	chr11:9927800-9944400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:9928000-9944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:9928000-9944400	Weak transcription	Brain Anterior Caudate	brain
18	chr11:9928400-9944200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:9928600-9944200	Weak transcription	Adipose Nuclei	Adipose
20	chr11:9929000-9944200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:9929000-9944400	Weak transcription	Liver	Liver
22	chr11:9929000-9952000	Weak transcription	Fetal Lung	lung
23	chr11:9929200-9966800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:9929400-9944400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:9929600-9944200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:9929600-9944400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:9929600-9944400	Weak transcription	HSMM	muscle
28	chr11:9929600-9944400	Weak transcription	Osteobl	bone
29	chr11:9929600-9953000	Weak transcription	HSMMtube	muscle
30	chr11:9930600-9944200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:9931000-9944400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:9932000-9944400	Weak transcription	A549	lung
33	chr11:9933600-9946200	Weak transcription	Fetal Intestine Small	intestine
34	chr11:9934400-9944400	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:9934800-9952200	Weak transcription	Fetal Stomach	stomach
36	chr11:9935800-9944400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:9935800-9952000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:9936000-9944600	Weak transcription	NHDF-Ad	bronchial
39	chr11:9936200-9943000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:9936200-9951800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:9936200-9952000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:9941200-9944400	Weak transcription	HMEC	breast
43	chr11:9941400-9944400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:9941600-9952400	Weak transcription	Fetal Brain Female	brain
45	chr11:9942200-9943600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:9942200-9952200	Weak transcription	Fetal Intestine Large	intestine
47	chr11:9942400-9943000	Weak transcription	NHEK	skin

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