Variant report

Variant	esv3356700
Chromosome Location	chr7:3120523-3121492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11442041	chr7:3120549-3120550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11435935	chr7:3120550-3120551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185885873	chr7:3120560-3120561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397971299	chr7:3120565-3120566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536832521	chr7:3120566-3120567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531711993	chr7:3120641-3120642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557021227	chr7:3120665-3120666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571296335	chr7:3120692-3120693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533963989	chr7:3120698-3120699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139904826	chr7:3120718-3120719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189041731	chr7:3120724-3120725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554713685	chr7:3120725-3120726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536817097	chr7:3120726-3120727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569164580	chr7:3120747-3120748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371151092	chr7:3120771-3120772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537476521	chr7:3120810-3120811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556486182	chr7:3120814-3120815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576623310	chr7:3120824-3120825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538728060	chr7:3120838-3120839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112387733	chr7:3120859-3120860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572051015	chr7:3120861-3120862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192201250	chr7:3120872-3120873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183986322	chr7:3120893-3120894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73044327	chr7:3120912-3120913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs13242179	chr7:3120939-3120940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188768056	chr7:3120962-3120963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543553418	chr7:3120970-3120971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574057017	chr7:3120987-3120988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563332564	chr7:3121003-3121004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532212625	chr7:3121005-3121006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368400235	chr7:3121013-3121014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75980860	chr7:3121018-3121019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547399415	chr7:3121113-3121114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533516171	chr7:3121165-3121166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180738164	chr7:3121174-3121175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550491221	chr7:3121176-3121177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185894605	chr7:3121195-3121196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539265062	chr7:3121207-3121208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148718300	chr7:3121217-3121218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74568766	chr7:3121254-3121255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534557238	chr7:3121266-3121267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189566942	chr7:3121314-3121315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578142288	chr7:3121321-3121322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574417701	chr7:3121326-3121327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543339812	chr7:3121344-3121345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182090554	chr7:3121345-3121346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376185727	chr7:3121348-3121349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186421971	chr7:3121354-3121355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201200689	chr7:3121389-3121390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1075362	chr7:3121402-3121403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3118400-3122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3119000-3121800	Weak transcription	Primary B cells from peripheral blood	blood

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