Variant report

Variant	rs58602953
Chromosome Location	chr11:9484573-9484574
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9484308-9484658	GM12892	blood:	n/a	n/a
2	BACH1	chr11:9484522-9485078	K562	blood:	n/a	n/a
3	NFIC	chr11:9484315-9485313	GM12878	blood:	n/a	n/a
4	CEBPB	chr11:9484504-9484888	A549	lung:	n/a	chr11:9484670-9484681
5	POLR2A	chr11:9484427-9484987	GM12892	blood:	n/a	n/a
6	MEF2C	chr11:9484538-9485088	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:9479688-9485037	PANC-1	pancreas:	n/a	n/a
8	IKZF1	chr11:9484573-9485230	GM12878	blood:	n/a	n/a
9	CUX1	chr11:9484565-9485046	GM12878	blood:	n/a	n/a
10	FOXM1	chr11:9484408-9485121	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:9484386-9484656	GM12878	blood:	n/a	n/a
12	NFATC1	chr11:9484560-9485115	GM12878	blood:	n/a	n/a
13	RUNX3	chr11:9484361-9485065	GM12878	blood:	n/a	n/a
14	JUND	chr11:9484565-9485185	GM12878	blood:	n/a	chr11:9484857-9484868
15	CEBPB	chr11:9484439-9484860	K562	blood:	n/a	chr11:9484670-9484681
16	PML	chr11:9484441-9485216	GM12878	blood:	n/a	n/a
17	NFIC	chr11:9484356-9485178	GM12878	blood:	n/a	n/a
18	TBL1XR1	chr11:9484559-9485279	K562	blood:	n/a	n/a
19	POLR2A	chr11:9484439-9485029	GM12892	blood:	n/a	n/a
20	ATF2	chr11:9484503-9485121	GM12878	blood:	n/a	n/a
21	ATF2	chr11:9484504-9485081	GM12878	blood:	n/a	n/a
22	CEBPB	chr11:9484528-9484796	HepG2	liver:	n/a	chr11:9484670-9484681
23	RUNX3	chr11:9484383-9485120	GM12878	blood:	n/a	n/a
24	EBF1	chr11:9484418-9485096	GM12878	blood:	n/a	chr11:9484824-9484835
25	MTA3	chr11:9484473-9485120	GM12878	blood:	n/a	n/a
26	MEF2A	chr11:9484458-9485098	GM12878	blood:	n/a	n/a
27	MTA3	chr11:9484365-9485298	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9481508..9485106-chr11:9595203..9601095,6	MCF-7	breast:
2	chr11:9480226..9484903-chr11:9591788..9598525,12	MCF-7	breast:
3	chr11:8709096..8712017-chr11:9482712..9485056,2	K562	blood:
4	chr11:9484087..9486819-chr11:9549318..9550945,2	K562	blood:
5	chr11:9478618..9485582-chr11:9593299..9599536,13	K562	blood:
6	chr11:9483118..9484824-chr11:9600066..9602856,2	K562	blood:
7	chr11:9405101..9410331-chr11:9478772..9485340,14	K562	blood:
8	chr11:9479692..9486524-chr11:9491765..9498081,14	K562	blood:
9	chr11:9479099..9485582-chr11:9593306..9599058,18	K562	blood:
10	chr11:9483782..9486616-chr11:9533440..9536137,2	MCF-7	breast:
11	chr11:9403958..9411793-chr11:9477944..9485616,22	K562	blood:
12	chr11:9422398..9424757-chr11:9482761..9485642,2	MCF-7	breast:
13	chr11:9164859..9166403-chr11:9483116..9485555,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268403	TF binding region
ENSG00000238387	Chromatin interaction
ENSG00000243869	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000184014	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000205339	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1048487	0.86[AFR][1000 genomes]
rs11042379	1.00[AFR][1000 genomes]
rs12274646	1.00[AFR][1000 genomes]
rs34972213	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56067293	0.81[AFR][1000 genomes]
rs56080598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57050521	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57731483	0.81[AFR][1000 genomes]
rs58580896	0.81[AFR][1000 genomes]
rs58904027	0.86[AFR][1000 genomes]
rs59113683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59158354	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59571955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60482254	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404370	0.81[AFR][1000 genomes]
rs73404376	0.81[AFR][1000 genomes]
rs73404388	0.81[AFR][1000 genomes]
rs73404392	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404395	0.81[AFR][1000 genomes]
rs73406215	0.81[AFR][1000 genomes]
rs73406223	0.81[AFR][1000 genomes]
rs73406243	0.86[AFR][1000 genomes]
rs73406255	0.86[AFR][1000 genomes]
rs73406259	0.86[AFR][1000 genomes]
rs73406261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406286	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406291	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406301	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 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	chr11:9481000-9484600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9483200-9485600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:9483200-9494200	Weak transcription	Gastric	stomach
4	chr11:9483200-9495000	Weak transcription	Spleen	Spleen
5	chr11:9483400-9499800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:9483600-9485400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr11:9483600-9485600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr11:9483600-9485800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:9483600-9492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:9483600-9493400	Weak transcription	Lung	lung
11	chr11:9483600-9494000	Weak transcription	Ovary	ovary
12	chr11:9483600-9494600	Weak transcription	Esophagus	oesophagus
13	chr11:9483600-9499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:9483600-9499400	Weak transcription	Pancreas	Pancrea
15	chr11:9483600-9518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:9483800-9484600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr11:9483800-9484600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:9483800-9484600	Enhancers	Adipose Nuclei	Adipose
19	chr11:9483800-9484800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:9483800-9484800	Enhancers	Primary hematopoietic stem cells	blood
21	chr11:9483800-9484800	Enhancers	Osteobl	bone
22	chr11:9483800-9485000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr11:9483800-9485000	Enhancers	Aorta	Aorta
24	chr11:9483800-9485000	Enhancers	NHDF-Ad	bronchial
25	chr11:9483800-9485200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:9483800-9485200	Enhancers	Stomach Mucosa	stomach
27	chr11:9483800-9485400	Enhancers	Primary B cells from peripheral blood	blood
28	chr11:9483800-9485400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr11:9483800-9485400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr11:9483800-9485400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:9483800-9485600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr11:9483800-9485800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr11:9483800-9485800	Enhancers	Fetal Heart	heart
34	chr11:9484000-9484600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:9484000-9484600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:9484000-9484600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:9484000-9484600	Enhancers	Placenta	Placenta
38	chr11:9484000-9484600	Enhancers	Small Intestine	intestine
39	chr11:9484000-9484600	Enhancers	Thymus	Thymus
40	chr11:9484000-9484600	Enhancers	NH-A	brain
41	chr11:9484000-9484600	Weak transcription	NHLF	lung
42	chr11:9484000-9484800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:9484000-9484800	Enhancers	Duodenum Mucosa	Duodenum
44	chr11:9484000-9484800	Enhancers	Right Ventricle	heart
45	chr11:9484000-9484800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:9484000-9485000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:9484000-9485200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:9484000-9485200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr11:9484000-9485200	Enhancers	Brain Germinal Matrix	brain
50	chr11:9484000-9485200	Enhancers	HMEC	breast

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