Variant report

Variant	esv3434613
Chromosome Location	chr6:62551393-62555591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182843282	chr6:62551400-62551401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376276630	chr6:62551401-62551402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187534128	chr6:62551433-62551434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79666564	chr6:62551436-62551437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553795	chr6:62551461-62551462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535299250	chr6:62551505-62551506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199577352	chr6:62551517-62551518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556815261	chr6:62551521-62551522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575165902	chr6:62551586-62551587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569522326	chr6:62551595-62551596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35400793	chr6:62551617-62551618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192784617	chr6:62551629-62551630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565238324	chr6:62551637-62551638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72880666	chr6:62551647-62551648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527487356	chr6:62551680-62551681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559625411	chr6:62551696-62551697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377022455	chr6:62551697-62551698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145819402	chr6:62551719-62551720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184412134	chr6:62551779-62551780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563890353	chr6:62551832-62551833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531191285	chr6:62551886-62551887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552905540	chr6:62551927-62551928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143452058	chr6:62551992-62551993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547542112	chr6:62551993-62551994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34270829	chr6:62552022-62552023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528112939	chr6:62552114-62552115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs581201	chr6:62552190-62552191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568089492	chr6:62552208-62552209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573610961	chr6:62552276-62552277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535194817	chr6:62552280-62552281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147973035	chr6:62552297-62552298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568714975	chr6:62552303-62552304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539346025	chr6:62552313-62552314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557809577	chr6:62552344-62552345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73758037	chr6:62552347-62552348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541097304	chr6:62552389-62552390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190443708	chr6:62552400-62552401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142325552	chr6:62552504-62552505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542354645	chr6:62552516-62552517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56229006	chr6:62552530-62552531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs544758130	chr6:62552534-62552535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116050413	chr6:62552540-62552541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562271131	chr6:62552579-62552580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546465434	chr6:62552614-62552615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144706780	chr6:62552642-62552643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563190944	chr6:62552646-62552647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs475351	chr6:62552663-62552664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs72880669	chr6:62552682-62552683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371163037	chr6:62552721-62552722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551855909	chr6:62552810-62552811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62521800-62574000	Weak transcription	Primary B cells from cord blood	blood
2	chr6:62550600-62551600	Weak transcription	Fetal Kidney	kidney
3	chr6:62551600-62552000	Enhancers	Fetal Kidney	kidney

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