Variant report

Variant	esv3428335
Chromosome Location	chr6:64755043-64757091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561621585	chr6:64755069-64755070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529133581	chr6:64755120-64755121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72875097	chr6:64755156-64755157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544137660	chr6:64755164-64755165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562696264	chr6:64755209-64755210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556869333	chr6:64755217-64755218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551407438	chr6:64755222-64755223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566452049	chr6:64755238-64755239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11753547	chr6:64755239-64755240	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548483513	chr6:64755277-64755278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201079713	chr6:64755334-64755335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202000435	chr6:64755335-64755336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557408946	chr6:64755420-64755421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140829319	chr6:64755487-64755488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539657119	chr6:64755501-64755502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188074790	chr6:64755543-64755544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573023572	chr6:64755546-64755547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371605302	chr6:64755565-64755566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375912883	chr6:64755583-64755584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540355886	chr6:64755608-64755609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536403676	chr6:64755619-64755620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181994630	chr6:64755655-64755656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573740900	chr6:64755674-64755675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150141833	chr6:64755680-64755681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562644400	chr6:64755739-64755740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533107680	chr6:64755754-64755755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554749603	chr6:64755759-64755760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531425083	chr6:64755780-64755781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34431372	chr6:64755800-64755801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71887956	chr6:64755801-64755802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71551555	chr6:64755802-64755803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199884451	chr6:64755803-64755804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373881398	chr6:64755804-64755805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113200863	chr6:64755818-64755819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145492103	chr6:64755866-64755867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148854890	chr6:64755872-64755873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145212881	chr6:64755906-64755907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34375671	chr6:64755916-64755917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549133780	chr6:64755924-64755925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374539112	chr6:64755993-64755994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558485832	chr6:64756044-64756045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116262236	chr6:64756070-64756071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs137872116	chr6:64756080-64756081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34419507	chr6:64756093-64756094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs397782593	chr6:64756094-64756095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551207122	chr6:64756108-64756109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142389643	chr6:64756158-64756159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186334888	chr6:64756169-64756170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145889728	chr6:64756178-64756179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562427273	chr6:64756184-64756185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Cancer	20164920	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
Cancer	20164919	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64754200-64755200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:64754200-64755400	Enhancers	HepG2	liver
3	chr6:64754400-64755400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:64754600-64755200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:64755200-64756200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:64755400-64755800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:64755400-64755800	Weak transcription	HepG2	liver
8	chr6:64755800-64756200	Enhancers	HepG2	liver
9	chr6:64755800-64757400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:64756200-64757000	Flanking Active TSS	HepG2	liver
11	chr6:64756200-64757600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:64757000-64757800	Enhancers	HepG2	liver

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