Variant report

Variant	rs11236071
Chromosome Location	chr11:74071072-74071073
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10219237	0.81[TSI][hapmap]
rs10431176	0.83[CEU][hapmap];0.87[TSI][hapmap]
rs10459047	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1053021	0.81[YRI][hapmap]
rs10793072	0.81[YRI][hapmap]
rs10793073	0.81[YRI][hapmap]
rs10793074	0.81[YRI][hapmap]
rs10898962	0.83[CEU][hapmap];0.87[TSI][hapmap]
rs10898966	0.83[CEU][hapmap];0.87[TSI][hapmap]
rs10898974	0.92[CEU][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes]
rs10898975	1.00[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs10898976	1.00[CEU][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs10898980	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898984	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11236029	0.83[CEU][hapmap];0.87[TSI][hapmap]
rs11236042	1.00[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs11236043	1.00[CEU][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes]
rs11236044	0.84[EUR][1000 genomes]
rs11236052	1.00[CEU][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11236053	1.00[CEU][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11236054	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11236060	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11236063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11236072	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236077	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236081	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236082	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236083	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236091	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11236092	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[GIH][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11236093	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11236096	0.81[EUR][1000 genomes]
rs12049823	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs12225215	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12225446	1.00[CEU][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1279293	0.89[ASW][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17132964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1944971	0.83[CEU][hapmap];0.87[TSI][hapmap]
rs2282488	1.00[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs2509532	0.81[EUR][1000 genomes]
rs3741130	0.81[YRI][hapmap]
rs3741132	1.00[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap]
rs3741133	0.83[CEU][hapmap];0.87[TSI][hapmap]
rs3867270	0.81[YRI][hapmap]
rs3867271	0.81[YRI][hapmap]
rs3867272	0.81[YRI][hapmap]
rs4121668	0.92[CEU][hapmap]
rs515924	0.85[CEU][hapmap];0.92[YRI][hapmap];0.81[EUR][1000 genomes]
rs550552	0.92[CEU][hapmap]
rs588725	0.85[CEU][hapmap]
rs61258589	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61288268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61902380	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61902404	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs625532	0.91[CEU][hapmap]
rs630078	0.92[CEU][hapmap]
rs639228	0.92[CEU][hapmap]
rs658976	0.92[CEU][hapmap]
rs676103	0.85[CEU][hapmap];0.92[YRI][hapmap];0.81[EUR][1000 genomes]
rs7117465	0.92[CEU][hapmap];0.85[CHD][hapmap]
rs7924914	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7926851	0.81[YRI][hapmap]
rs7940145	0.81[YRI][hapmap]
rs7941916	0.81[YRI][hapmap]
rs7945908	0.81[YRI][hapmap]
rs7949639	0.83[CEU][hapmap]
rs7951617	1.00[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv1049915	chr11:74052264-74126319	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11236071	UCP2	cis	multi-tissue	Pritchard
rs11236071	P4HA3	cis	cerebellum	SCAN
rs11236071	PGM2L1	cis	multi-tissue	Pritchard
rs11236071	PPME1	cis	cerebellum	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74031200-74071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74037400-74078800	Weak transcription	Small Intestine	intestine
3	chr11:74037800-74086200	Weak transcription	Brain Anterior Caudate	brain
4	chr11:74038000-74071200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:74038000-74077400	Weak transcription	Psoas Muscle	Psoas
6	chr11:74038000-74077600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:74038000-74084400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:74038200-74071400	Weak transcription	Left Ventricle	heart
9	chr11:74038200-74071400	Weak transcription	Lung	lung
10	chr11:74038200-74082000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:74038200-74084400	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:74038400-74084400	Weak transcription	Liver	Liver
13	chr11:74038400-74086200	Weak transcription	Adipose Nuclei	Adipose
14	chr11:74038600-74071400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:74039400-74071400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:74041800-74071200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:74041800-74071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:74042000-74077600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:74042200-74081200	Weak transcription	Hela-S3	cervix
20	chr11:74044800-74079200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr11:74045800-74071400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr11:74045800-74073200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:74046000-74071800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:74047200-74071200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr11:74047800-74077600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:74048400-74077800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:74049400-74071800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:74049400-74080400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:74049800-74077400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:74050800-74085800	Weak transcription	Colonic Mucosa	Colon
31	chr11:74051000-74071400	Weak transcription	Gastric	stomach
32	chr11:74051000-74071400	Weak transcription	Pancreas	Pancrea
33	chr11:74052400-74071200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:74053200-74071400	Weak transcription	Ovary	ovary
35	chr11:74053400-74071600	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:74056600-74071400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:74056600-74077600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:74056800-74077400	Weak transcription	HSMMtube	muscle
39	chr11:74057200-74071200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:74057200-74071400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:74058400-74071400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:74059000-74071200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:74059000-74077600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:74062600-74071200	Weak transcription	Fetal Lung	lung
45	chr11:74062800-74077600	Weak transcription	HUVEC	blood vessel
46	chr11:74063600-74071200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:74064400-74071400	Weak transcription	Esophagus	oesophagus
48	chr11:74065000-74071400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:74065000-74071600	Strong transcription	Fetal Thymus	thymus
50	chr11:74065200-74071600	Weak transcription	Aorta	Aorta

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