Variant report

Variant	rs16992166
Chromosome Location	chr22:33733527-33733528
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11913717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16992174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157198	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157199	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283892	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2283893	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs28645138	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4322933	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560231	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613386	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57917413	1.00[ASN][1000 genomes]
rs58959950	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5998860	1.00[JPT][hapmap]
rs5998862	1.00[JPT][hapmap]
rs5998877	1.00[ASN][1000 genomes]
rs5998878	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998879	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5998881	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998882	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998883	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998887	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998888	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5998889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60122905	1.00[ASN][1000 genomes]
rs61242860	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61531606	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73401440	1.00[ASN][1000 genomes]
rs73401467	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401481	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8135160	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8135185	0.97[ASN][1000 genomes]
rs8135526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8135835	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137471	1.00[JPT][hapmap]
rs8139132	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8139519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs8139984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8140876	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621675	1.00[JPT][hapmap]
rs9680610	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9680635	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9680641	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1064192	chr22:33615699-33741836	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1060316	chr22:33644676-33737725	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1061485	chr22:33670971-33885169	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
10	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33673400-33735000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33676600-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:33679400-33743800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr22:33696200-33748000	Weak transcription	Fetal Lung	lung
5	chr22:33698600-33736400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:33710600-33740000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr22:33711200-33735800	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:33712200-33735200	Weak transcription	Brain Angular Gyrus	brain
9	chr22:33712400-33735000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:33716200-33735600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:33723200-33739600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr22:33723800-33751200	Weak transcription	Aorta	Aorta
13	chr22:33725600-33749600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:33726000-33733600	Weak transcription	GM12878-XiMat	blood
15	chr22:33726800-33735200	Weak transcription	Colonic Mucosa	Colon
16	chr22:33727000-33735400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr22:33727200-33757800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:33727800-33734600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:33729400-33735600	Strong transcription	Ovary	ovary
20	chr22:33729600-33734600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr22:33730400-33734200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:33730600-33734800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr22:33730800-33735600	Strong transcription	Left Ventricle	heart
24	chr22:33731000-33733600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr22:33731000-33734600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:33731000-33735000	Weak transcription	Fetal Muscle Leg	muscle
27	chr22:33731200-33738800	Strong transcription	Fetal Stomach	stomach
28	chr22:33731200-33746600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr22:33731400-33773400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr22:33731400-33779800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr22:33731600-33734400	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr22:33731600-33734800	Weak transcription	Brain Substantia Nigra	brain
33	chr22:33731800-33733600	Strong transcription	Adipose Nuclei	Adipose
34	chr22:33731800-33733600	Enhancers	A549	lung
35	chr22:33731800-33733800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:33731800-33734200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:33732000-33733800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr22:33732000-33734200	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr22:33732200-33734600	Weak transcription	NHLF	lung
40	chr22:33732200-33734800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr22:33732200-33735000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr22:33732200-33746600	Weak transcription	Fetal Intestine Large	intestine
43	chr22:33732200-33751000	Weak transcription	Fetal Brain Male	brain
44	chr22:33732600-33733600	Strong transcription	Brain Hippocampus Middle	brain
45	chr22:33732600-33734000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr22:33732600-33760600	Weak transcription	Right Ventricle	heart
47	chr22:33732800-33750400	Weak transcription	Liver	Liver
48	chr22:33733000-33733600	Strong transcription	Brain Anterior Caudate	brain
49	chr22:33733000-33733600	Strong transcription	Fetal Heart	heart
50	chr22:33733000-33733800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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