Variant report

Variant	rs16992152
Chromosome Location	chr22:33725092-33725093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11913092	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11913784	0.83[EUR][1000 genomes]
rs11913954	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16992108	0.86[EUR][1000 genomes]
rs16992122	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992125	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992130	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992133	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992137	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992140	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992147	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992148	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992150	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992154	1.00[EUR][1000 genomes]
rs16992178	0.83[EUR][1000 genomes]
rs16992180	0.83[EUR][1000 genomes]
rs16992182	0.83[EUR][1000 genomes]
rs16992183	0.83[EUR][1000 genomes]
rs16992192	0.83[EUR][1000 genomes]
rs58327654	1.00[EUR][1000 genomes]
rs5998885	0.83[EUR][1000 genomes]
rs60173794	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8135054	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8136451	0.90[AFR][1000 genomes]
rs8138098	1.00[EUR][1000 genomes]
rs8138392	1.00[EUR][1000 genomes]
rs8138517	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8139051	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8139218	0.92[AFR][1000 genomes]
rs8142048	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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	nsv1056097	chr22:33650328-33733456	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	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
11	nsv1060896	chr22:33698546-33729763	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1059522	chr22:33706201-33728482	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33673400-33726400	Weak transcription	Colonic Mucosa	Colon
2	chr22:33673400-33735000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:33676600-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:33679400-33733200	Weak transcription	Fetal Brain Female	brain
5	chr22:33679400-33743800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr22:33696200-33748000	Weak transcription	Fetal Lung	lung
7	chr22:33698600-33736400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:33699400-33731800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:33710400-33733400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:33710400-33733400	Weak transcription	Spleen	Spleen
11	chr22:33710600-33740000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr22:33710800-33726400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr22:33710800-33726400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:33711200-33735800	Weak transcription	Colon Smooth Muscle	Colon
15	chr22:33711400-33726800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr22:33711400-33733000	Weak transcription	Brain Anterior Caudate	brain
17	chr22:33711600-33731800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:33712200-33730600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:33712200-33731600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr22:33712200-33732600	Weak transcription	Brain Hippocampus Middle	brain
21	chr22:33712200-33733200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr22:33712200-33735200	Weak transcription	Brain Angular Gyrus	brain
23	chr22:33712400-33726400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr22:33712400-33729400	Weak transcription	Ovary	ovary
25	chr22:33712400-33730600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr22:33712400-33730600	Weak transcription	Gastric	stomach
27	chr22:33712400-33733200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:33712400-33733200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr22:33712400-33733200	Weak transcription	Lung	lung
30	chr22:33712400-33735000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:33712600-33730000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:33712600-33733400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr22:33716200-33735600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr22:33718800-33731800	Weak transcription	Adipose Nuclei	Adipose
35	chr22:33719600-33725400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr22:33721800-33725200	Weak transcription	NHEK	skin
37	chr22:33721800-33730600	Weak transcription	Fetal Kidney	kidney
38	chr22:33723200-33725800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr22:33723200-33728600	Weak transcription	Right Ventricle	heart
40	chr22:33723200-33732600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr22:33723200-33739600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr22:33723400-33730400	Weak transcription	Fetal Muscle Leg	muscle
43	chr22:33723400-33730600	Weak transcription	Fetal Stomach	stomach
44	chr22:33723400-33730600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr22:33723400-33733200	Weak transcription	Pancreas	Pancrea
46	chr22:33723800-33726600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:33723800-33727800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr22:33723800-33751200	Weak transcription	Aorta	Aorta
49	chr22:33724000-33728000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr22:33724200-33728200	Weak transcription	Fetal Heart	heart

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