Variant report

Variant	rs5994707
Chromosome Location	chr22:33668230-33668231
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57182222	0.87[AFR][1000 genomes]
rs59957248	0.87[AFR][1000 genomes]
rs73397575	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397580	0.85[AFR][1000 genomes]
rs73399507	0.81[AFR][1000 genomes]
rs73399519	0.87[AFR][1000 genomes]
rs73399520	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33660000-33722800	Weak transcription	HSMMtube	muscle
2	chr22:33661600-33670600	Weak transcription	Lung	lung
3	chr22:33664400-33672600	Enhancers	Primary B cells from peripheral blood	blood
4	chr22:33664600-33668800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:33664600-33669600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:33665200-33672800	Enhancers	HepG2	liver
7	chr22:33665600-33669200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr22:33666000-33668800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:33666000-33676800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:33666200-33668400	Enhancers	Brain Hippocampus Middle	brain
11	chr22:33666200-33668800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr22:33666200-33668800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr22:33666200-33676800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:33666400-33669200	Weak transcription	Fetal Stomach	stomach
15	chr22:33666600-33668800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr22:33666800-33668400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr22:33666800-33668800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr22:33666800-33713600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:33667000-33668400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:33667000-33668400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:33667000-33668800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:33667000-33669600	Flanking Active TSS	GM12878-XiMat	blood
23	chr22:33667000-33669800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:33667200-33669200	Weak transcription	Fetal Intestine Large	intestine
25	chr22:33667200-33678600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr22:33667200-33697800	Weak transcription	Colon Smooth Muscle	Colon
27	chr22:33667400-33668400	Flanking Active TSS	Liver	Liver
28	chr22:33667400-33668400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr22:33667400-33668800	Enhancers	Psoas Muscle	Psoas
30	chr22:33667400-33668800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr22:33667400-33669000	Enhancers	Gastric	stomach
32	chr22:33667400-33669200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:33667400-33669200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:33667400-33669600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr22:33667600-33668400	Enhancers	Pancreas	Pancrea
36	chr22:33667600-33668800	Weak transcription	Ovary	ovary
37	chr22:33667600-33669200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr22:33667600-33669600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr22:33667600-33672600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr22:33667600-33676400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:33667600-33678400	Weak transcription	Brain Germinal Matrix	brain
42	chr22:33667600-33724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:33667800-33668800	Enhancers	Primary B cells from cord blood	blood
44	chr22:33667800-33668800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr22:33667800-33669200	Weak transcription	Fetal Intestine Small	intestine
46	chr22:33667800-33671200	Weak transcription	Fetal Heart	heart
47	chr22:33667800-33672600	Weak transcription	Brain Substantia Nigra	brain
48	chr22:33667800-33672800	Weak transcription	Colonic Mucosa	Colon
49	chr22:33667800-33672800	Weak transcription	Spleen	Spleen
50	chr22:33667800-33673000	Weak transcription	Rectal Smooth Muscle	rectum

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