Variant report

Variant	rs72861063
Chromosome Location	chr11:10590194-10590195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr11:10590154-10590557	HepG2	liver:	n/a	chr11:10590341-10590351 chr11:10590335-10590355 chr11:10590339-10590348 chr11:10590334-10590349
2	JUN	chr11:10590123-10590482	HUVEC	blood vessel:	n/a	chr11:10590340-10590350 chr11:10590340-10590350 chr11:10590340-10590350 chr11:10590340-10590350
3	JUND	chr11:10590178-10590507	K562	blood:	n/a	chr11:10590340-10590350 chr11:10590340-10590350 chr11:10590340-10590350 chr11:10590339-10590350 chr11:10590340-10590350
4	RFX5	chr11:10590192-10590392	HepG2	liver:	n/a	n/a
5	BACH1	chr11:10590183-10590540	H1-hESC	embryonic stem cell:	n/a	n/a
6	ARID3A	chr11:10590124-10590346	HepG2	liver:	n/a	n/a
7	MAFF	chr11:10590165-10590580	HepG2	liver:	n/a	chr11:10590338-10590352 chr11:10590332-10590350
8	GATA2	chr11:10589933-10590528	HUVEC	blood vessel:	n/a	n/a
9	MAFK	chr11:10590168-10590539	HepG2	liver:	n/a	chr11:10590341-10590351 chr11:10590335-10590355 chr11:10590339-10590348 chr11:10590334-10590349

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:10590159-10590209	AoSMC	blood vessel:	n/a
2	chr11:10590159-10590209	U87	brain:	n/a
3	chr11:10590159-10590209	LNCaP	prostate:	n/a
4	chr11:10590159-10590209	Jurkat	blood:	n/a
5	chr11:10590159-10590209	HIPEpiC	eye:	n/a
6	chr11:10590159-10590209	HCM	heart:	n/a
7	chr11:10590159-10590209	SK-N-SH_RA	brain:	n/a
8	chr11:10590159-10590209	H1-hESC	embryonic stem cell:	embryo
9	chr11:10590159-10590209	HRCEpiC	kidney:	n/a
10	chr11:10590159-10590209	PFSK-1	brain:	n/a
11	chr11:10590159-10590209	GM12878	blood:	n/a
12	chr11:10590159-10590209	AG09319	gingival:	n/a
13	chr11:10590159-10590209	Caco-2	colon:	n/a
14	chr11:10590159-10590209	A549	lung:	n/a
15	chr11:10590159-10590209	AG04450	lung:	fetal
16	chr11:10590159-10590209	RPTEC	kidney:	n/a
17	chr11:10590159-10590209	Hela-S3	cervix:	n/a
18	chr11:10590159-10590209	HEEpiC	esophagus:	n/a
19	chr11:10590159-10590209	HMEC	breast:	n/a
20	chr11:10590159-10590209	GM06990	blood:	n/a
21	chr11:10590159-10590209	MCF-7	breast:	n/a
22	chr11:10590159-10590209	HL-60	blood:	n/a
23	chr11:10590159-10590209	GM12891	blood:	n/a
24	chr11:10590159-10590209	SK-N-MC	brain:	n/a
25	chr11:10590159-10590209	NH-A	brain:	n/a
26	chr11:10590159-10590209	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:10590159-10590209	HNPCEpiC	eye:	n/a
28	chr11:10590159-10590209	HUVEC	blood vessel:	n/a
29	chr11:10590159-10590209	AG09309	skin:	n/a
30	chr11:10590159-10590209	AG04449	skin:	fetal
31	chr11:10590159-10590209	CMK	blood:	n/a
32	chr11:10590159-10590209	ProgFib	skin:	n/a
33	chr11:10590159-10590209	NHBE	bronchial:	n/a
34	chr11:10590159-10590209	K562	blood:	n/a
35	chr11:10590159-10590209	HRE	kidney:	n/a
36	chr11:10590159-10590209	SK-N-SH	brain:	n/a
37	chr11:10590159-10590209	HepG2	liver:	n/a
38	chr11:10590159-10590209	ovcar-3	ovarian:	n/a
39	chr11:10590159-10590209	HCT-116	colon:	n/a
40	chr11:10590159-10590209	BE2_C	brain:	n/a
41	chr11:10590159-10590209	NT2-D1	testis:	n/a
42	chr11:10590159-10590209	HCF	heart:	n/a
43	chr11:10590159-10590209	PANC-1	pancreas:	n/a
44	chr11:10590159-10590209	SKMC	muscle:	n/a
45	chr11:10590159-10590209	Hepatocyte	liver:	n/a
46	chr11:10590159-10590209	AG10803	skin:	n/a
47	chr11:10590159-10590209	HEK293	kidney:	embryo
48	chr11:10590159-10590209	ECC-1	luminal epithelium:	n/a
49	chr11:10590159-10590209	GM12892	blood:	n/a
50	chr11:10590159-10590209	IMR90	lung:	fetal

Variant related genes	Relation type
LYVE1	TF binding region
LYVE1	CpG island

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10500728	0.90[EUR][1000 genomes]
rs11821864	1.00[EUR][1000 genomes]
rs12099382	0.90[EUR][1000 genomes]
rs16907959	0.90[EUR][1000 genomes]
rs2403331	0.90[EUR][1000 genomes]
rs55637826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55657367	0.90[EUR][1000 genomes]
rs55676441	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55897150	0.90[EUR][1000 genomes]
rs56070854	1.00[EUR][1000 genomes]
rs56399907	1.00[AMR][1000 genomes]
rs72859111	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859115	0.90[EUR][1000 genomes]
rs72859152	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859180	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859181	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859188	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859201	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72861010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861016	1.00[EUR][1000 genomes]
rs72861018	1.00[EUR][1000 genomes]
rs72861030	1.00[EUR][1000 genomes]
rs72861037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861079	1.00[EUR][1000 genomes]
rs72861081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861083	1.00[EUR][1000 genomes]
rs72861085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862310	1.00[EUR][1000 genomes]
rs72862320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862327	1.00[EUR][1000 genomes]
rs72862332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862333	1.00[EUR][1000 genomes]
rs72862335	1.00[EUR][1000 genomes]
rs72862385	0.90[EUR][1000 genomes]
rs72862390	0.81[EUR][1000 genomes]
rs9292	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10573000-10603200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:10580600-10609800	Weak transcription	Thymus	Thymus
3	chr11:10583000-10600000	Weak transcription	Fetal Intestine Large	intestine
4	chr11:10583200-10601800	Weak transcription	Fetal Intestine Small	intestine
5	chr11:10583600-10595800	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:10584000-10591200	Weak transcription	Aorta	Aorta
7	chr11:10585000-10590400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:10586000-10590400	Active TSS	Adipose Nuclei	Adipose
9	chr11:10586200-10594400	Weak transcription	Fetal Stomach	stomach
10	chr11:10586200-10594800	Weak transcription	Spleen	Spleen
11	chr11:10586400-10620400	Weak transcription	Brain Anterior Caudate	brain
12	chr11:10586600-10594000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:10586800-10590200	Weak transcription	NHDF-Ad	bronchial
14	chr11:10587200-10594200	Weak transcription	Primary B cells from cord blood	blood
15	chr11:10587200-10594400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:10587200-10595600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:10587600-10605000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:10588000-10590200	Active TSS	Liver	Liver
19	chr11:10588000-10590200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr11:10588200-10591400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:10588200-10594400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:10588400-10595800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:10588600-10591400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr11:10588600-10592000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:10588600-10602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:10589000-10594000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:10589000-10595000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:10589800-10590200	Active TSS	Brain Hippocampus Middle	brain
29	chr11:10589800-10590200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr11:10589800-10590200	Active TSS	Fetal Lung	lung
31	chr11:10589800-10590200	Active TSS	Rectal Smooth Muscle	rectum
32	chr11:10589800-10590600	Active TSS	Fetal Kidney	kidney
33	chr11:10589800-10590600	Enhancers	Pancreas	Pancrea
34	chr11:10589800-10590800	Enhancers	HepG2	liver
35	chr11:10589800-10591800	Enhancers	K562	blood
36	chr11:10589800-10592000	Enhancers	Left Ventricle	heart
37	chr11:10590000-10590200	Enhancers	Fetal Muscle Trunk	muscle
38	chr11:10590000-10590200	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr11:10590000-10590200	Enhancers	Placenta	Placenta
40	chr11:10590000-10590200	Flanking Active TSS	Lung	lung
41	chr11:10590000-10590200	Flanking Active TSS	Right Atrium	heart
42	chr11:10590000-10590200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr11:10590000-10590200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr11:10590000-10590400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr11:10590000-10590600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:10590000-10590600	Enhancers	Ovary	ovary
47	chr11:10590000-10590600	Enhancers	Right Ventricle	heart
48	chr11:10590000-10590600	Enhancers	Stomach Smooth Muscle	stomach
49	chr11:10590000-10591400	Enhancers	Osteobl	bone
50	chr11:10590000-10591600	Enhancers	H9 Cell Line	embryonic stem cell

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