Variant report

Variant	rs11217852
Chromosome Location	chr11:120261187-120261188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10750172	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10750173	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10750174	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10790378	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10790380	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10790382	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10790383	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10892562	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10892563	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10892564	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10892566	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10892567	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10892570	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10892574	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10892576	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10892578	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10892582	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11217821	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11217840	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11217841	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11217887	0.81[EUR][1000 genomes]
rs11600703	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601535	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12361632	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12417256	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12417581	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12420378	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12787285	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12794946	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12806740	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1373270	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1892894	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1893261	0.81[AMR][1000 genomes]
rs2305008	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2305010	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34298380	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4381380	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4539328	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4936517	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4938799	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4938801	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4938804	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4938805	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4938806	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4938808	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61898351	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6589810	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6589811	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6589812	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6589813	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7101415	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7104639	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7107211	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7115714	0.95[EUR][1000 genomes]
rs7117063	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7117321	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7118391	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121779	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7126328	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7131046	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7131597	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs723937	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7478880	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924772	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7924963	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7924975	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932037	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932658	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7933086	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937612	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7939137	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7948928	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7951250	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7952529	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs894839	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9633919	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9633950	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS 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	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1047982	chr11:120238962-120276373	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1050709	chr11:120246224-120276373	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120232000-120274800	Weak transcription	Ovary	ovary
2	chr11:120251400-120261200	Weak transcription	Brain Substantia Nigra	brain
3	chr11:120254600-120265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:120254600-120266400	Weak transcription	Gastric	stomach
5	chr11:120254600-120271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:120255400-120262200	Weak transcription	Right Ventricle	heart
7	chr11:120255800-120262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:120256200-120262000	Weak transcription	Left Ventricle	heart
9	chr11:120256200-120262200	Weak transcription	HSMMtube	muscle
10	chr11:120256400-120262000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:120256600-120261800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:120256800-120261600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:120256800-120261800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:120256800-120262000	Weak transcription	Psoas Muscle	Psoas
15	chr11:120256800-120262000	Weak transcription	NH-A	brain
16	chr11:120257000-120261400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:120257000-120262000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:120257200-120261200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:120257200-120262200	Weak transcription	HSMM	muscle
20	chr11:120257400-120261600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:120257400-120261800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:120257600-120261200	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:120257600-120261400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:120257800-120261200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:120257800-120262200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:120257800-120262200	Weak transcription	NHDF-Ad	bronchial
27	chr11:120257800-120263200	Weak transcription	NHLF	lung
28	chr11:120258000-120261200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:120258000-120261400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:120258000-120262200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:120258000-120263000	Weak transcription	Osteobl	bone
32	chr11:120258000-120263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:120258200-120262000	Weak transcription	Brain Germinal Matrix	brain
34	chr11:120258200-120262800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:120258200-120262800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:120258400-120262000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:120260600-120262800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:120260600-120262800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:120260600-120262800	Enhancers	HUVEC	blood vessel
40	chr11:120260600-120263200	Enhancers	Liver	Liver
41	chr11:120260800-120261200	Weak transcription	Brain Angular Gyrus	brain
42	chr11:120260800-120261200	Enhancers	Fetal Lung	lung
43	chr11:120260800-120261200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr11:120260800-120261400	Enhancers	Fetal Brain Male	brain
45	chr11:120260800-120261400	Enhancers	Small Intestine	intestine
46	chr11:120260800-120261800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:120260800-120262000	Flanking Active TSS	HepG2	liver
48	chr11:120260800-120262200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr11:120260800-120262600	Enhancers	A549	lung
50	chr11:120260800-120263000	Enhancers	Stomach Mucosa	stomach

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