Variant report

Variant	nsv523537
Chromosome Location	chr2:11061156-11075317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11070868..11073523-chr2:11073573..11076580,4	MCF-7	breast:
2	chr2:11051873..11054967-chr2:11069156..11073328,3	MCF-7	breast:
3	chr2:11063866..11066911-chr2:11073875..11076596,3	K562	blood:
4	chr2:11050045..11052988-chr2:11069931..11072758,2	MCF-7	breast:
5	chr2:11057377..11060185-chr2:11071124..11073413,3	MCF-7	breast:
6	chr2:11053891..11056006-chr2:11074074..11075819,2	MCF-7	breast:
7	chr2:11063730..11067649-chr2:11070741..11076086,7	MCF-7	breast:
8	chr2:11051753..11053643-chr2:11073602..11075521,2	MCF-7	breast:
9	chr2:11056290..11057062-chr2:11066095..11066758,2	K562	blood:
10	chr2:11051784..11053608-chr2:11064157..11066409,2	MCF-7	breast:
11	chr2:11054784..11057728-chr2:11061728..11064590,3	MCF-7	breast:
12	chr2:11065411..11067104-chr2:11075096..11077076,2	K562	blood:
13	chr2:11063730..11067649-chr2:11070741..11076086,7	MCF-7	breast:
14	chr2:11063866..11066911-chr2:11073875..11076596,3	K562	blood:
15	chr2:11073057..11076699-chr2:11262086..11264690,5	MCF-7	breast:
16	chr2:11074723..11077921-chr2:11081034..11085033,4	MCF-7	breast:
17	chr2:11070868..11073523-chr2:11073573..11076580,4	MCF-7	breast:
18	chr2:11059744..11063370-chr2:11065035..11067309,5	K562	blood:
19	chr2:11060369..11062715-chr2:11069853..11071919,2	MCF-7	breast:
20	chr2:11049134..11051684-chr2:11064717..11067313,2	K562	blood:
21	chr2:11074952..11076639-chr2:11264485..11265994,2	MCF-7	breast:
22	chr2:11053991..11056052-chr2:11065201..11067671,2	MCF-7	breast:
23	chr2:11074983..11076503-chr2:11504797..11506450,2	MCF-7	breast:
24	chr2:11049420..11051539-chr2:11073823..11076217,2	MCF-7	breast:
25	chr2:11050815..11054618-chr2:11074174..11077815,3	MCF-7	breast:
26	chr2:11060369..11062715-chr2:11069853..11071919,2	MCF-7	breast:
27	chr2:11075163..11076703-chr2:11081992..11083807,2	K562	blood:
28	chr2:11065411..11067104-chr2:11075096..11077076,2	K562	blood:
29	chr2:11071388..11071888-chr2:11168643..11169182,2	MCF-7	breast:
30	chr2:11059744..11063370-chr2:11065035..11067309,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230952	chromatin interactions
ENSG00000162975	chromatin interactions

Extended variants
information (count: 615 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13431259	chr2:11061156-11061157	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs114132384	chr2:11061210-11061211	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs115146301	chr2:11061211-11061212	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs180754679	chr2:11061223-11061224	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs373068705	chr2:11061245-11061246	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs370090843	chr2:11061312-11061313	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs557930854	chr2:11061319-11061320	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs143477219	chr2:11061341-11061342	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs921605	chr2:11061353-11061354	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542328127	chr2:11061388-11061389	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs369722850	chr2:11061394-11061395	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs185313378	chr2:11061401-11061402	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116405763	chr2:11061402-11061403	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552608093	chr2:11061409-11061410	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188454702	chr2:11061415-11061416	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34834183	chr2:11061419-11061420	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559504212	chr2:11061532-11061533	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573101367	chr2:11061549-11061550	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150962290	chr2:11061565-11061566	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373456151	chr2:11061576-11061577	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563473462	chr2:11061593-11061594	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181278719	chr2:11061612-11061613	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs140815563	chr2:11061637-11061638	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs4669646	chr2:11061715-11061716	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs144812231	chr2:11061763-11061764	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs370119177	chr2:11061778-11061779	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs571807589	chr2:11061795-11061796	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs539280075	chr2:11061810-11061811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546737361	chr2:11061817-11061818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531219343	chr2:11061834-11061835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569790281	chr2:11061845-11061846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57410277	chr2:11061867-11061868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115531135	chr2:11061884-11061885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541316814	chr2:11061942-11061943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551943232	chr2:11061946-11061947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577755550	chr2:11061969-11061970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs60166994	chr2:11061995-11061996	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138752108	chr2:11062029-11062030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575348497	chr2:11062038-11062039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542571387	chr2:11062054-11062055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544306043	chr2:11062103-11062104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185818315	chr2:11062110-11062111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528523456	chr2:11062131-11062132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs118083994	chr2:11062202-11062203	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs141900593	chr2:11062208-11062209	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs76008405	chr2:11062216-11062217	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs532725054	chr2:11062249-11062250	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs551212240	chr2:11062255-11062256	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs191783879	chr2:11062257-11062258	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs537148701	chr2:11062266-11062267	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11054200-11063600	Enhancers	Fetal Thymus	thymus
2	chr2:11054400-11072400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:11055200-11069800	Weak transcription	A549	lung
4	chr2:11057000-11069400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:11057600-11070600	Weak transcription	Fetal Brain Female	brain
6	chr2:11058600-11063000	Enhancers	Fetal Brain Male	brain
7	chr2:11058800-11061400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:11059000-11062800	Enhancers	Thymus	Thymus
9	chr2:11059800-11064200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:11059800-11064400	Weak transcription	NHLF	lung
11	chr2:11059800-11067600	Weak transcription	Right Atrium	heart
12	chr2:11060000-11061800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:11060200-11061400	Enhancers	Brain Angular Gyrus	brain
14	chr2:11060200-11061400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:11060200-11062400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:11060400-11062400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:11060600-11061200	Weak transcription	Brain Germinal Matrix	brain
18	chr2:11060600-11061800	Weak transcription	Brain Anterior Caudate	brain
19	chr2:11060600-11066400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:11060800-11061800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:11060800-11062400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:11060800-11062400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:11061400-11061600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:11061600-11063400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:11061800-11062000	Enhancers	Brain Anterior Caudate	brain
26	chr2:11061800-11069800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:11062000-11062600	Weak transcription	Brain Anterior Caudate	brain
28	chr2:11062200-11062800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:11062200-11063000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr2:11062400-11062800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr2:11062400-11062800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:11062400-11062800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:11062400-11062800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:11062400-11063200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:11062400-11063200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:11062400-11063200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:11062600-11062800	Enhancers	Brain Anterior Caudate	brain
38	chr2:11063000-11066400	Weak transcription	Fetal Brain Male	brain
39	chr2:11063200-11064800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:11063400-11064800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:11063600-11064800	Weak transcription	Fetal Thymus	thymus
42	chr2:11064200-11064600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr2:11064200-11065200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:11064400-11064600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:11064400-11065000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:11064600-11064800	Enhancers	NHLF	lung
47	chr2:11064600-11065200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:11064800-11065000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:11064800-11065000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:11064800-11065000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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