Variant report

Variant	rs5998885
Chromosome Location	chr22:33731899-33731900
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
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]
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[EUR][1000 genomes]
rs16992180	1.00[EUR][1000 genomes]
rs16992182	1.00[EUR][1000 genomes]
rs16992183	1.00[EUR][1000 genomes]
rs16992192	1.00[EUR][1000 genomes]
rs58327654	0.83[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]
rs8141257	1.00[ASN][1000 genomes]
rs8142048	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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:70 , 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	chr22:33679400-33733200	Weak transcription	Fetal Brain Female	brain
4	chr22:33679400-33743800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr22:33696200-33748000	Weak transcription	Fetal Lung	lung
6	chr22:33698600-33736400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:33710400-33733400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:33710400-33733400	Weak transcription	Spleen	Spleen
9	chr22:33710600-33740000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr22:33711200-33735800	Weak transcription	Colon Smooth Muscle	Colon
11	chr22:33711400-33733000	Weak transcription	Brain Anterior Caudate	brain
12	chr22:33712200-33732600	Weak transcription	Brain Hippocampus Middle	brain
13	chr22:33712200-33733200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr22:33712200-33735200	Weak transcription	Brain Angular Gyrus	brain
15	chr22:33712400-33733200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:33712400-33733200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr22:33712400-33733200	Weak transcription	Lung	lung
18	chr22:33712400-33735000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:33712600-33733400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:33716200-33735600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr22:33723200-33732600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr22:33723200-33739600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr22:33723400-33733200	Weak transcription	Pancreas	Pancrea
24	chr22:33723800-33751200	Weak transcription	Aorta	Aorta
25	chr22:33725600-33749600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr22:33725800-33732000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr22:33725800-33733400	Weak transcription	Stomach Mucosa	stomach
28	chr22:33726000-33733600	Weak transcription	GM12878-XiMat	blood
29	chr22:33726800-33733200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr22:33726800-33735200	Weak transcription	Colonic Mucosa	Colon
31	chr22:33727000-33733200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr22:33727000-33733400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:33727000-33735400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr22:33727200-33732000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr22:33727200-33757800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr22:33727800-33732000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr22:33727800-33734600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr22:33728400-33733200	Enhancers	HepG2	liver
39	chr22:33728600-33732600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr22:33729400-33735600	Strong transcription	Ovary	ovary
41	chr22:33729600-33734600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr22:33730400-33734200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:33730600-33732200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr22:33730600-33732800	Enhancers	Liver	Liver
45	chr22:33730600-33734800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr22:33730800-33732000	Weak transcription	Fetal Kidney	kidney
47	chr22:33730800-33733200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr22:33730800-33733400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr22:33730800-33735600	Strong transcription	Left Ventricle	heart
50	chr22:33731000-33732600	Strong transcription	Right Ventricle	heart

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