Variant report

Variant	rs5998840
Chromosome Location	chr22:33677117-33677118
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11913122	1.00[EUR][1000 genomes]
rs11913247	1.00[EUR][1000 genomes]
rs11913820	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11913962	1.00[EUR][1000 genomes]
rs11914009	1.00[EUR][1000 genomes]
rs12158409	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12158415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12159214	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166563	1.00[EUR][1000 genomes]
rs16991916	1.00[EUR][1000 genomes]
rs16991969	1.00[EUR][1000 genomes]
rs16992012	1.00[EUR][1000 genomes]
rs16992174	1.00[CEU][hapmap]
rs16992228	1.00[CEU][hapmap]
rs2157200	1.00[CEU][hapmap]
rs2283893	1.00[CEU][hapmap]
rs2413177	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4322933	1.00[CEU][hapmap]
rs56660136	1.00[EUR][1000 genomes]
rs56784849	1.00[EUR][1000 genomes]
rs57743865	1.00[EUR][1000 genomes]
rs58499026	1.00[EUR][1000 genomes]
rs58653235	1.00[EUR][1000 genomes]
rs59142382	1.00[EUR][1000 genomes]
rs59845765	1.00[EUR][1000 genomes]
rs5994713	1.00[CEU][hapmap]
rs5994714	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs5998836	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs5998838	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998839	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs5998841	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998848	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs5998849	1.00[CEU][hapmap]
rs5998853	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs5998854	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs5998856	1.00[EUR][1000 genomes]
rs5998857	1.00[EUR][1000 genomes]
rs5998881	1.00[CEU][hapmap]
rs5998882	1.00[CEU][hapmap]
rs5998883	1.00[CEU][hapmap]
rs5998884	1.00[CEU][hapmap]
rs5998886	1.00[CEU][hapmap]
rs5998887	1.00[CEU][hapmap]
rs5998888	1.00[CEU][hapmap]
rs5998889	1.00[CEU][hapmap]
rs60578463	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6518814	1.00[EUR][1000 genomes]
rs7285350	0.82[YRI][hapmap]
rs73403398	1.00[EUR][1000 genomes]
rs73405312	1.00[EUR][1000 genomes]
rs73405344	1.00[EUR][1000 genomes]
rs73405383	1.00[EUR][1000 genomes]
rs73885004	1.00[EUR][1000 genomes]
rs741979	1.00[EUR][1000 genomes]
rs743792	1.00[EUR][1000 genomes]
rs750515	1.00[CEU][hapmap]
rs8135785	1.00[CEU][hapmap]
rs8136395	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8139132	1.00[CEU][hapmap]
rs8139984	1.00[CEU][hapmap]
rs8140876	1.00[CEU][hapmap]
rs8142882	1.00[CEU][hapmap]
rs9621640	1.00[EUR][1000 genomes]
rs9621642	1.00[EUR][1000 genomes]
rs9680635	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:70 , 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	chr22:33667200-33678600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr22:33667200-33697800	Weak transcription	Colon Smooth Muscle	Colon
5	chr22:33667600-33678400	Weak transcription	Brain Germinal Matrix	brain
6	chr22:33667600-33724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:33667800-33678400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:33667800-33678600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr22:33667800-33678600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr22:33667800-33679000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr22:33668400-33678200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr22:33668400-33697800	Weak transcription	Brain Hippocampus Middle	brain
13	chr22:33668400-33712200	Weak transcription	Esophagus	oesophagus
14	chr22:33668800-33720400	Weak transcription	Psoas Muscle	Psoas
15	chr22:33669400-33678400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr22:33669600-33698200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr22:33670400-33698200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:33670600-33678200	Weak transcription	Fetal Intestine Small	intestine
19	chr22:33670600-33678400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:33670600-33685400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:33670600-33699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:33671000-33678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:33671400-33688400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:33672400-33679400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr22:33672600-33711800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr22:33672800-33686800	Strong transcription	Fetal Stomach	stomach
27	chr22:33673000-33695800	Weak transcription	Fetal Lung	lung
28	chr22:33673200-33698200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr22:33673200-33698200	Weak transcription	Brain Substantia Nigra	brain
30	chr22:33673200-33709600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr22:33673200-33710000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr22:33673400-33678400	Weak transcription	Lung	lung
33	chr22:33673400-33678800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr22:33673400-33679200	Weak transcription	Spleen	Spleen
35	chr22:33673400-33691200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr22:33673400-33726400	Weak transcription	Colonic Mucosa	Colon
37	chr22:33673400-33735000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:33673600-33690600	Weak transcription	Adipose Nuclei	Adipose
39	chr22:33673800-33678400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:33673800-33700000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr22:33674000-33678200	Weak transcription	Brain Angular Gyrus	brain
42	chr22:33674000-33678400	Weak transcription	Fetal Brain Female	brain
43	chr22:33674000-33678400	Weak transcription	Ovary	ovary
44	chr22:33674000-33678600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr22:33674000-33678800	Weak transcription	Brain Anterior Caudate	brain
46	chr22:33674200-33678400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr22:33674200-33678400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr22:33674200-33692200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr22:33674200-33695600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:33674400-33678800	Weak transcription	Fetal Intestine Large	intestine

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