Variant report

Variant	esv3352041
Chromosome Location	chr6:141407059-141410457
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556772747	chr6:141407068-141407069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543897218	chr6:141407076-141407077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577904235	chr6:141407154-141407155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538692332	chr6:141407159-141407160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371721068	chr6:141407187-141407188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184842438	chr6:141407241-141407242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200833940	chr6:141407247-141407248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs36009569	chr6:141407268-141407269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189259895	chr6:141407271-141407272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572239554	chr6:141407300-141407301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543069132	chr6:141407425-141407426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142946279	chr6:141407434-141407435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180945377	chr6:141407469-141407470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544194242	chr6:141407553-141407554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151103275	chr6:141407581-141407582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533241429	chr6:141407633-141407634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554836539	chr6:141407640-141407641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73581179	chr6:141407689-141407690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530226972	chr6:141407691-141407692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72983182	chr6:141407719-141407720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368848601	chr6:141407735-141407736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73581181	chr6:141407790-141407791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140186238	chr6:141407799-141407800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534803671	chr6:141407802-141407803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550152778	chr6:141407819-141407820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184436507	chr6:141407829-141407830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550087443	chr6:141407836-141407837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557346595	chr6:141407853-141407854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143548989	chr6:141407854-141407855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373625161	chr6:141407886-141407887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553761316	chr6:141407936-141407937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189322250	chr6:141407947-141407948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35426947	chr6:141407983-141407984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532847558	chr6:141408000-141408001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115610214	chr6:141408019-141408020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555013041	chr6:141408058-141408059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572963132	chr6:141408124-141408125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373437384	chr6:141408175-141408176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544423344	chr6:141408194-141408195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367678607	chr6:141408198-141408199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562669113	chr6:141408216-141408217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578028301	chr6:141408255-141408256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2633950	chr6:141408264-141408265	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181314941	chr6:141408268-141408269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372572128	chr6:141408347-141408348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527249671	chr6:141408362-141408363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369448221	chr6:141408388-141408389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548818410	chr6:141408410-141408411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561069754	chr6:141408422-141408423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186319846	chr6:141408441-141408442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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
Colorectal cancer	16272173	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141405800-141408800	Weak transcription	Liver	Liver
2	chr6:141408000-141408400	Enhancers	Fetal Brain Female	brain
3	chr6:141408800-141410200	Enhancers	Liver	Liver

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