Variant report

Variant	esv3335549
Chromosome Location	chr2:33848512-33850576
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	chr2:33848285..33850159-chr2:33851964..33854579,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560606694	chr2:33848534-33848535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34482270	chr2:33848550-33848551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549110202	chr2:33848552-33848553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75912871	chr2:33848555-33848556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187617859	chr2:33848598-33848599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191898780	chr2:33848600-33848601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571506159	chr2:33848627-33848628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534167038	chr2:33848637-33848638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573373461	chr2:33848690-33848691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73928945	chr2:33848715-33848716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567254203	chr2:33848796-33848797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140859960	chr2:33848800-33848801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555904370	chr2:33848826-33848827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576021160	chr2:33848845-33848846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111569800	chr2:33848851-33848852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181076702	chr2:33848913-33848914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150412819	chr2:33848914-33848915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199541241	chr2:33848928-33848929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568504018	chr2:33848939-33848940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75380102	chr2:33848943-33848944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536445410	chr2:33848948-33848949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574070203	chr2:33848959-33848960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145177627	chr2:33848961-33848962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542971373	chr2:33848970-33848971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185278994	chr2:33848990-33848991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548434414	chr2:33849030-33849031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190255635	chr2:33849092-33849093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116662079	chr2:33849116-33849117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551333598	chr2:33849224-33849225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375836505	chr2:33849266-33849267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569929634	chr2:33849271-33849272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201057678	chr2:33849308-33849309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565249785	chr2:33849334-33849335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527833675	chr2:33849352-33849353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59455759	chr2:33849366-33849367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs35967326	chr2:33849375-33849376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567321737	chr2:33849396-33849397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145063949	chr2:33849398-33849399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55732959	chr2:33849406-33849407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs386644609	chr2:33849456-33849457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs60913270	chr2:33849467-33849468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58006815	chr2:33849469-33849470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569546368	chr2:33849497-33849498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370418058	chr2:33849523-33849524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114062239	chr2:33849541-33849542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138852751	chr2:33849555-33849556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs59809293	chr2:33849581-33849582	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs534779735	chr2:33849647-33849648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554481862	chr2:33849657-33849658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182574110	chr2:33849671-33849672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33845200-33859400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:33845200-33859600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:33845600-33849400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:33849400-33849600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:33849400-33849800	Enhancers	Ovary	ovary
6	chr2:33849800-33850800	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links