Variant report

Variant	nsv970376
Chromosome Location	chr6:66097122-66110345
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:66097248..66097748-chr7:48217360..48217884,2	MCF-7	breast:

Extended variants
information (count: 125 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548310936	chr6:66097132-66097133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78701581	chr6:66097135-66097136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537572634	chr6:66097158-66097159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386702128	chr6:66099217-66099218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1157217	chr6:66099219-66099220	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564517158	chr6:66099241-66099242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578062008	chr6:66099248-66099249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540221574	chr6:66099272-66099273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9345618	chr6:66099281-66099282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529342642	chr6:66099288-66099289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546743214	chr6:66099309-66099310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562727713	chr6:66099332-66099333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78764492	chr6:66099337-66099338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570155459	chr6:66099444-66099445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539430652	chr6:66099445-66099446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546248113	chr6:66099464-66099465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370739592	chr6:66099466-66099467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566574499	chr6:66099468-66099469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535182670	chr6:66099479-66099480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577412394	chr6:66099495-66099496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555626687	chr6:66099499-66099500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575505907	chr6:66099511-66099512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538182994	chr6:66099514-66099515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544795026	chr6:66099518-66099519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371944608	chr6:66099552-66099553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192987204	chr6:66099556-66099557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185531449	chr6:66099579-66099580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9345619	chr6:66099581-66099582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372131872	chr6:66108232-66108233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112587065	chr6:66108235-66108236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192647076	chr6:66108239-66108240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184346734	chr6:66108248-66108249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560324979	chr6:66108260-66108261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568797360	chr6:66108272-66108273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527770610	chr6:66108276-66108277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537723833	chr6:66108287-66108288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546322202	chr6:66108324-66108325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564316775	chr6:66108337-66108338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140602269	chr6:66108342-66108343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531554075	chr6:66108349-66108350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544629517	chr6:66108353-66108354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547983059	chr6:66108379-66108380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189043032	chr6:66108395-66108396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34453042	chr6:66108412-66108413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375450185	chr6:66108439-66108440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112177188	chr6:66108440-66108441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181634661	chr6:66108444-66108445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151223440	chr6:66108460-66108461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139127081	chr6:66108500-66108501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184737351	chr6:66108545-66108546	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66095800-66097200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:66099200-66099600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:66108200-66109200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:66109200-66110000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:66110000-66110200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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