Variant report

Variant	esv3370610
Chromosome Location	chr7:40288577-40289625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149707377	chr7:40288584-40288585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13310800	chr7:40288602-40288603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543395956	chr7:40288609-40288610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146725539	chr7:40288612-40288613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13310439	chr7:40288760-40288761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13310441	chr7:40288770-40288771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13310473	chr7:40288784-40288785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543053297	chr7:40288804-40288805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377538558	chr7:40288827-40288828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542486246	chr7:40288845-40288846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562165284	chr7:40288906-40288907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373453861	chr7:40288913-40288914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539770465	chr7:40288916-40288917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557757108	chr7:40288918-40288919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572810390	chr7:40288922-40288923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368809684	chr7:40288925-40288926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57348487	chr7:40288941-40288942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112559648	chr7:40288977-40288978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564856078	chr7:40289023-40289024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181809060	chr7:40289037-40289038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34541896	chr7:40289086-40289087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369595770	chr7:40289087-40289088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11763124	chr7:40289162-40289163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540721724	chr7:40289224-40289225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367610129	chr7:40289314-40289315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553631437	chr7:40289315-40289316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186404772	chr7:40289329-40289330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191796348	chr7:40289350-40289351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150251052	chr7:40289393-40289394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563325710	chr7:40289394-40289395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564519808	chr7:40289409-40289410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183622636	chr7:40289436-40289437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549233632	chr7:40289447-40289448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113667968	chr7:40289449-40289450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377072483	chr7:40289461-40289462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551191971	chr7:40289462-40289463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371002046	chr7:40289479-40289480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537134730	chr7:40289544-40289545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111659723	chr7:40289545-40289546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573650158	chr7:40289586-40289587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40272200-40303400	Weak transcription	Liver	Liver
2	chr7:40280600-40291800	Weak transcription	Pancreas	Pancrea
3	chr7:40281000-40295000	Weak transcription	Fetal Intestine Small	intestine
4	chr7:40287000-40296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:40288400-40288800	Enhancers	Fetal Heart	heart

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