Variant report

Variant	esv3387150
Chromosome Location	chr7:3270757-3271612
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3256947..3259532-chr7:3270807..3273199,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373701664	chr7:3270771-3270772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372021770	chr7:3270774-3270775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145927774	chr7:3270778-3270779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538627089	chr7:3270822-3270823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116972039	chr7:3270827-3270828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572281730	chr7:3270873-3270874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534586033	chr7:3270874-3270875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374425626	chr7:3270882-3270883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76890026	chr7:3270894-3270895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4719865	chr7:3270895-3270896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs543213942	chr7:3270907-3270908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556234128	chr7:3270908-3270909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73041590	chr7:3270912-3270913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575718577	chr7:3270921-3270922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537598836	chr7:3270965-3270966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78072529	chr7:3270975-3270976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565165557	chr7:3270981-3270982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142026059	chr7:3270992-3270993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541331834	chr7:3271000-3271001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75358089	chr7:3271006-3271007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115224204	chr7:3271015-3271016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74302037	chr7:3271025-3271026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569759824	chr7:3271029-3271030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566141097	chr7:3271030-3271031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532135282	chr7:3271036-3271037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552270366	chr7:3271041-3271042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565505241	chr7:3271049-3271050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371619031	chr7:3271050-3271051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554394347	chr7:3271085-3271086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540904499	chr7:3271104-3271105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562169399	chr7:3271118-3271119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190210886	chr7:3271148-3271149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536836351	chr7:3271149-3271150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556774187	chr7:3271180-3271181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576462518	chr7:3271181-3271182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545145641	chr7:3271198-3271199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370253905	chr7:3271267-3271268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572309702	chr7:3271286-3271287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11980737	chr7:3271314-3271315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536101733	chr7:3271325-3271326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369297260	chr7:3271326-3271327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201906414	chr7:3271343-3271344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62439554	chr7:3271349-3271350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552007882	chr7:3271354-3271355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs66536065	chr7:3271355-3271356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58756801	chr7:3271356-3271357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377687001	chr7:3271357-3271358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71029650	chr7:3271367-3271368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373429585	chr7:3271368-3271369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs398003446	chr7:3271371-3271372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3262400-3271800	Weak transcription	Left Ventricle	heart
2	chr7:3267600-3273000	Weak transcription	Aorta	Aorta
3	chr7:3270600-3270800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:3270800-3271800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3271600-3272000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr7:3271600-3272600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:3271600-3272800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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