Variant report

Variant	rs5998866
Chromosome Location	chr22:33701818-33701819
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11089617	0.84[ASN][1000 genomes]
rs11089618	0.84[ASN][1000 genomes]
rs12159874	0.84[ASN][1000 genomes]
rs12160591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998859	0.84[ASN][1000 genomes]
rs5998860	0.84[ASN][1000 genomes]
rs5998862	0.84[ASN][1000 genomes]
rs5998864	0.84[ASN][1000 genomes]
rs60791078	0.84[ASN][1000 genomes]
rs73166230	0.84[ASN][1000 genomes]
rs9621675	0.84[ASN][1000 genomes]
rs9621676	0.84[ASN][1000 genomes]
rs9621677	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1055475	chr22:33680854-33710571	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33660000-33722800	Weak transcription	HSMMtube	muscle
2	chr22:33666800-33713600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr22:33667600-33724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:33668400-33712200	Weak transcription	Esophagus	oesophagus
5	chr22:33668800-33720400	Weak transcription	Psoas Muscle	Psoas
6	chr22:33672600-33711800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr22:33673200-33709600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:33673200-33710000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr22:33673400-33726400	Weak transcription	Colonic Mucosa	Colon
10	chr22:33673400-33735000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:33676600-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:33677600-33709600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr22:33679200-33709600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:33679400-33705600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:33679400-33709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr22:33679400-33713800	Weak transcription	Brain Germinal Matrix	brain
17	chr22:33679400-33733200	Weak transcription	Fetal Brain Female	brain
18	chr22:33679400-33743800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr22:33687000-33709600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr22:33690200-33718400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:33691600-33705800	Weak transcription	Gastric	stomach
22	chr22:33692600-33711200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr22:33693000-33710400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr22:33694200-33703800	Weak transcription	Aorta	Aorta
25	chr22:33696200-33709200	Weak transcription	Pancreas	Pancrea
26	chr22:33696200-33725000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:33696200-33748000	Weak transcription	Fetal Lung	lung
28	chr22:33696400-33725000	Weak transcription	Stomach Mucosa	stomach
29	chr22:33696600-33721600	Weak transcription	Fetal Kidney	kidney
30	chr22:33698400-33718400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:33698600-33705800	Weak transcription	Fetal Intestine Large	intestine
32	chr22:33698600-33709800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:33698600-33736400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:33698800-33710000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr22:33698800-33719800	Weak transcription	HepG2	liver
36	chr22:33699000-33705800	Weak transcription	Ovary	ovary
37	chr22:33699000-33709600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr22:33699000-33709600	Weak transcription	Spleen	Spleen
39	chr22:33699000-33709800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:33699000-33709800	Weak transcription	Fetal Muscle Leg	muscle
41	chr22:33699000-33710000	Weak transcription	Adipose Nuclei	Adipose
42	chr22:33699000-33710400	Weak transcription	Colon Smooth Muscle	Colon
43	chr22:33699000-33711400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr22:33699200-33705600	Weak transcription	Liver	Liver
45	chr22:33699200-33713800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:33699400-33709600	Weak transcription	Brain Anterior Caudate	brain
47	chr22:33699400-33709600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr22:33699400-33709800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:33699400-33714400	Weak transcription	Brain Substantia Nigra	brain
50	chr22:33699400-33722800	Weak transcription	Fetal Muscle Trunk	muscle

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