Variant report

Variant	rs11913820
Chromosome Location	chr22:33734299-33734300
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33733629..33736334-chr22:33743159..33745695,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11913122	1.00[EUR][1000 genomes]
rs11913784	0.82[ASW][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs11913962	1.00[EUR][1000 genomes]
rs11914009	1.00[EUR][1000 genomes]
rs12158409	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12158415	1.00[EUR][1000 genomes]
rs12159214	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16991916	1.00[EUR][1000 genomes]
rs16991969	1.00[EUR][1000 genomes]
rs16992012	1.00[EUR][1000 genomes]
rs16992133	0.81[LWK][hapmap]
rs16992147	0.84[LWK][hapmap]
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[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]
rs58653235	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]
rs5998838	1.00[EUR][1000 genomes]
rs5998840	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs5998841	1.00[CEU][hapmap];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	1.00[EUR][1000 genomes]
rs6518814	1.00[EUR][1000 genomes]
rs7286990	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73403398	1.00[EUR][1000 genomes]
rs73405312	1.00[EUR][1000 genomes]
rs73405344	1.00[EUR][1000 genomes]
rs73405383	1.00[EUR][1000 genomes]
rs73407399	1.00[EUR][1000 genomes]
rs73409026	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]
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	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
10	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	chr22:33679400-33743800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr22:33696200-33748000	Weak transcription	Fetal Lung	lung
5	chr22:33698600-33736400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:33710600-33740000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr22:33711200-33735800	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:33712200-33735200	Weak transcription	Brain Angular Gyrus	brain
9	chr22:33712400-33735000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:33716200-33735600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:33723200-33739600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr22:33723800-33751200	Weak transcription	Aorta	Aorta
13	chr22:33725600-33749600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:33726800-33735200	Weak transcription	Colonic Mucosa	Colon
15	chr22:33727000-33735400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr22:33727200-33757800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:33727800-33734600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:33729400-33735600	Strong transcription	Ovary	ovary
19	chr22:33729600-33734600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr22:33730600-33734800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr22:33730800-33735600	Strong transcription	Left Ventricle	heart
22	chr22:33731000-33734600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:33731000-33735000	Weak transcription	Fetal Muscle Leg	muscle
24	chr22:33731200-33738800	Strong transcription	Fetal Stomach	stomach
25	chr22:33731200-33746600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:33731400-33773400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr22:33731400-33779800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr22:33731600-33734400	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr22:33731600-33734800	Weak transcription	Brain Substantia Nigra	brain
30	chr22:33732200-33734600	Weak transcription	NHLF	lung
31	chr22:33732200-33734800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr22:33732200-33735000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr22:33732200-33746600	Weak transcription	Fetal Intestine Large	intestine
34	chr22:33732200-33751000	Weak transcription	Fetal Brain Male	brain
35	chr22:33732600-33760600	Weak transcription	Right Ventricle	heart
36	chr22:33732800-33750400	Weak transcription	Liver	Liver
37	chr22:33733200-33734400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:33733200-33734400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr22:33733400-33734600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr22:33733400-33734800	Strong transcription	Spleen	Spleen
41	chr22:33733600-33734400	Enhancers	Gastric	stomach
42	chr22:33733600-33735200	Weak transcription	Brain Anterior Caudate	brain
43	chr22:33733600-33735200	Weak transcription	Brain Hippocampus Middle	brain
44	chr22:33733600-33735400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr22:33733600-33735400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr22:33733600-33737800	Weak transcription	Adipose Nuclei	Adipose
47	chr22:33733600-33741400	Weak transcription	Fetal Heart	heart
48	chr22:33733600-33744600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr22:33733600-33745000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr22:33733800-33736400	Weak transcription	Lung	lung

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