Variant report

Variant	rs592337
Chromosome Location	chr11:62508838-62508839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62495902..62497817-chr11:62508720..62510649,2	MCF-7	breast:
2	chr11:62508705..62510383-chr11:62516896..62519171,2	K562	blood:
3	chr11:62506189..62510152-chr11:62606550..62609762,4	K562	blood:
4	chr11:62507728..62510381-chr11:62518490..62520603,2	MCF-7	breast:
5	chr11:62490982..62494265-chr11:62506317..62509112,3	MCF-7	breast:
6	chr11:62498670..62500573-chr11:62507466..62509054,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185670	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11822922	1.00[EUR][1000 genomes]
rs12273912	1.00[EUR][1000 genomes]
rs1787724	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2510538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2584915	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2584917	0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2730030	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2956139	1.00[EUR][1000 genomes]
rs2958240	1.00[EUR][1000 genomes]
rs481272	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs482331	1.00[EUR][1000 genomes]
rs486451	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs489275	1.00[EUR][1000 genomes]
rs4963309	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs506132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs507101	1.00[EUR][1000 genomes]
rs514401	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs518780	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs519473	1.00[EUR][1000 genomes]
rs523328	1.00[EUR][1000 genomes]
rs544573	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs560618	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs561385	1.00[EUR][1000 genomes]
rs56226867	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56262657	1.00[EUR][1000 genomes]
rs564587	0.81[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs572513	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs573146	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57338459	1.00[EUR][1000 genomes]
rs575134	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs577071	1.00[EUR][1000 genomes]
rs57858466	1.00[EUR][1000 genomes]
rs595108	1.00[EUR][1000 genomes]
rs60568977	1.00[EUR][1000 genomes]
rs60668695	1.00[EUR][1000 genomes]
rs619109	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs646194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs692773	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs694678	1.00[EUR][1000 genomes]
rs73487834	1.00[EUR][1000 genomes]
rs73487878	1.00[EUR][1000 genomes]
rs73487879	1.00[EUR][1000 genomes]
rs73487880	1.00[EUR][1000 genomes]
rs73490026	1.00[EUR][1000 genomes]
rs73502133	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv348	chr11:62474450-62519712	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62496800-62516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:62496800-62521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:62497400-62520400	Weak transcription	Psoas Muscle	Psoas
4	chr11:62497600-62519400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:62497800-62509600	Strong transcription	Fetal Intestine Small	intestine
6	chr11:62497800-62519600	Weak transcription	Gastric	stomach
7	chr11:62498000-62509600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:62498000-62509600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:62498000-62509600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:62498600-62509600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:62498800-62509200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:62498800-62509600	Strong transcription	Fetal Stomach	stomach
13	chr11:62499000-62509600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:62499000-62520800	Weak transcription	Fetal Brain Male	brain
15	chr11:62499200-62509600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr11:62499200-62520800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:62499400-62510200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:62500000-62509000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:62500200-62509000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:62500200-62509200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:62500200-62509400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:62500200-62509400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:62500200-62509800	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:62500400-62509000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:62500400-62509000	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:62500400-62509200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:62500400-62509400	Strong transcription	Liver	Liver
28	chr11:62500400-62509400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:62500400-62509600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:62500400-62509600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:62500400-62509800	Strong transcription	Fetal Thymus	thymus
32	chr11:62500600-62509200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:62500600-62509600	Strong transcription	Osteobl	bone
34	chr11:62500600-62510600	Strong transcription	Thymus	Thymus
35	chr11:62500800-62509200	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:62500800-62509200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:62500800-62509200	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:62500800-62509600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:62500800-62509800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:62500800-62517600	Weak transcription	Stomach Mucosa	stomach
41	chr11:62501000-62509000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:62501000-62509400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr11:62501000-62509600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:62501000-62509600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:62501000-62509800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:62501000-62510600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:62501400-62509000	Strong transcription	Lung	lung
48	chr11:62501800-62509000	Strong transcription	GM12878-XiMat	blood
49	chr11:62502200-62509000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:62502200-62509600	Strong transcription	Spleen	Spleen

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