Variant report

Variant	rs1133833
Chromosome Location	chr11:8933064-8933065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10734638	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10840127	0.94[CEU][hapmap]
rs10840129	0.94[CEU][hapmap]
rs11042047	1.00[YRI][hapmap]
rs11042099	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1136966	0.85[MEX][hapmap];0.82[TSI][hapmap]
rs12794962	0.81[MEX][hapmap]
rs16906056	0.88[CEU][hapmap]
rs17337866	0.94[CEU][hapmap]
rs1811367	0.95[EUR][1000 genomes]
rs1969627	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1984775	0.87[TSI][hapmap]
rs2016844	0.81[MEX][hapmap]
rs2056903	0.81[MEX][hapmap]
rs2060157	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2568029	1.00[CEU][hapmap];0.85[GIH][hapmap];0.85[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2568035	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2568047	0.81[MEX][hapmap]
rs2568056	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2568078	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2653558	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2653566	0.94[EUR][1000 genomes]
rs2653574	0.83[GIH][hapmap];0.81[MEX][hapmap];1.00[ASN][1000 genomes]
rs2653601	0.81[MEX][hapmap]
rs2653604	0.81[MEX][hapmap]
rs2653609	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2653618	0.94[EUR][1000 genomes]
rs2742483	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2742493	0.81[MEX][hapmap]
rs2742496	0.81[MEX][hapmap]
rs2742497	0.81[MEX][hapmap]
rs2742502	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2742549	0.92[EUR][1000 genomes]
rs2742553	0.93[EUR][1000 genomes]
rs34105455	1.00[ASN][1000 genomes]
rs34152382	0.93[EUR][1000 genomes]
rs34371023	0.94[EUR][1000 genomes]
rs34581555	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34769330	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35580466	0.94[EUR][1000 genomes]
rs35909878	0.80[EUR][1000 genomes]
rs36100955	0.94[EUR][1000 genomes]
rs3751068	0.81[MEX][hapmap]
rs3850934	0.92[CEU][hapmap];1.00[ASN][1000 genomes]
rs3915868	0.89[CEU][hapmap]
rs4061640	0.80[EUR][1000 genomes]
rs4910068	1.00[CEU][hapmap];0.81[GIH][hapmap];0.85[MEX][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs7110170	0.84[EUR][1000 genomes]
rs7117900	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7125458	0.85[MEX][hapmap]
rs7936201	0.90[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs7950491	1.00[CEU][hapmap];1.00[ASN][1000 genomes]

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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1133833	RPL27A	cis	parietal	SCAN
rs1133833	C11orf17	cis	lymphoblastoid	seeQTL
rs1133833	C11orf17	Cis_1M	lymphoblastoid	RTeQTL
rs1133833	RPL27A	cis	cerebellum	SCAN
rs1133833	TMEM9B	cis	parietal	SCAN
rs1133833	C11orf17	cis	multi-tissue	Pritchard
rs1133833	PRKCDBP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8931200-8933800	Active TSS	Brain Anterior Caudate	brain
2	chr11:8931400-8933800	Active TSS	Brain Angular Gyrus	brain
3	chr11:8931400-8933800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr11:8931400-8933800	Active TSS	Fetal Lung	lung
5	chr11:8931400-8934000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:8931400-8934000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:8931400-8934000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:8931400-8934000	Active TSS	Rectal Smooth Muscle	rectum
9	chr11:8931400-8934200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:8931600-8933400	Active TSS	Lung	lung
11	chr11:8931600-8933600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:8931600-8933600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:8931600-8933800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:8931600-8933800	Active TSS	Brain Germinal Matrix	brain
15	chr11:8931600-8933800	Active TSS	Esophagus	oesophagus
16	chr11:8931600-8934000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:8931600-8934000	Active TSS	Colonic Mucosa	Colon
18	chr11:8931600-8934000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr11:8931600-8934000	Active TSS	Ovary	ovary
20	chr11:8931600-8934000	Active TSS	Right Atrium	heart
21	chr11:8931600-8934400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:8931600-8935200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:8931800-8933600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr11:8931800-8933800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:8931800-8933800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:8931800-8933800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:8931800-8933800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:8931800-8933800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:8931800-8933800	Active TSS	Primary T cells from cord blood	blood
30	chr11:8931800-8933800	Active TSS	Muscle Satellite Cultured Cells	--
31	chr11:8931800-8933800	Active TSS	Aorta	Aorta
32	chr11:8931800-8933800	Active TSS	Brain Hippocampus Middle	brain
33	chr11:8931800-8933800	Active TSS	Colon Smooth Muscle	Colon
34	chr11:8931800-8933800	Active TSS	Fetal Heart	heart
35	chr11:8931800-8933800	Active TSS	Placenta Amnion	Placenta Amnion
36	chr11:8931800-8933800	Active TSS	A549	lung
37	chr11:8931800-8933800	Active TSS	HepG2	liver
38	chr11:8931800-8934000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr11:8931800-8934000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:8931800-8934000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:8931800-8934000	Active TSS	HSMM	muscle
42	chr11:8931800-8934000	Active TSS	HSMMtube	muscle
43	chr11:8931800-8934200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:8931800-8934200	Active TSS	Fetal Brain Female	brain
45	chr11:8931800-8934200	Active TSS	Fetal Kidney	kidney
46	chr11:8931800-8934200	Active TSS	Thymus	Thymus
47	chr11:8931800-8934400	Active TSS	Brain Substantia Nigra	brain
48	chr11:8932000-8933400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:8932000-8933400	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr11:8932000-8933400	Active TSS	Gastric	stomach

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