Variant report

Variant	rs16992192
Chromosome Location	chr22:33745749-33745750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11913092	0.83[EUR][1000 genomes]
rs11913784	1.00[EUR][1000 genomes]
rs1555007	1.00[AMR][1000 genomes]
rs16992122	0.83[EUR][1000 genomes]
rs16992125	0.83[EUR][1000 genomes]
rs16992130	0.83[EUR][1000 genomes]
rs16992133	0.83[EUR][1000 genomes]
rs16992137	0.83[EUR][1000 genomes]
rs16992140	0.83[EUR][1000 genomes]
rs16992147	0.83[EUR][1000 genomes]
rs16992148	0.83[EUR][1000 genomes]
rs16992150	0.83[EUR][1000 genomes]
rs16992152	0.83[EUR][1000 genomes]
rs16992154	0.83[EUR][1000 genomes]
rs16992178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992182	1.00[EUR][1000 genomes]
rs16992183	1.00[EUR][1000 genomes]
rs58327654	0.83[EUR][1000 genomes]
rs5998885	1.00[EUR][1000 genomes]
rs60173794	0.83[EUR][1000 genomes]
rs8135054	0.83[EUR][1000 genomes]
rs8138098	0.83[EUR][1000 genomes]
rs8138392	0.83[EUR][1000 genomes]
rs8138517	0.83[EUR][1000 genomes]
rs8139051	0.83[EUR][1000 genomes]
rs8142048	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
6	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
7	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
8	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33696200-33748000	Weak transcription	Fetal Lung	lung
2	chr22:33723800-33751200	Weak transcription	Aorta	Aorta
3	chr22:33725600-33749600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:33727200-33757800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:33731200-33746600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:33731400-33773400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:33731400-33779800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:33732200-33746600	Weak transcription	Fetal Intestine Large	intestine
9	chr22:33732200-33751000	Weak transcription	Fetal Brain Male	brain
10	chr22:33732600-33760600	Weak transcription	Right Ventricle	heart
11	chr22:33732800-33750400	Weak transcription	Liver	Liver
12	chr22:33733800-33746800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr22:33733800-33751200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:33733800-33754000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr22:33733800-33757600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:33734000-33754000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:33734000-33777800	Weak transcription	Pancreas	Pancrea
18	chr22:33734400-33757400	Weak transcription	Gastric	stomach
19	chr22:33734600-33757400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr22:33734600-33760600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:33734800-33750600	Weak transcription	Spleen	Spleen
22	chr22:33735600-33746600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr22:33735600-33746600	Weak transcription	Left Ventricle	heart
24	chr22:33735600-33754400	Weak transcription	Ovary	ovary
25	chr22:33738000-33776800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr22:33738800-33746400	Weak transcription	Fetal Stomach	stomach
27	chr22:33742200-33749000	Weak transcription	Fetal Heart	heart
28	chr22:33743800-33746000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:33745000-33746200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr22:33745000-33746400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr22:33745000-33746800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr22:33745200-33746400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:33745400-33746400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:33745400-33747400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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