Variant report

Variant	esv3489009
Chromosome Location	chr7:149714399-149716783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145565434	chr7:149714408-149714409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373758587	chr7:149714423-149714424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540611971	chr7:149714446-149714447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59356398	chr7:149714458-149714459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192229225	chr7:149714568-149714569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200577211	chr7:149714573-149714574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574961765	chr7:149714586-149714587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577640590	chr7:149714587-149714588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201694736	chr7:149714605-149714606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374220689	chr7:149714608-149714609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563355041	chr7:149714624-149714625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542392240	chr7:149714625-149714626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199874030	chr7:149714665-149714666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549303616	chr7:149714688-149714689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184009686	chr7:149714700-149714701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111540288	chr7:149714729-149714730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186642470	chr7:149714736-149714737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3915846	chr7:149714764-149714765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570954355	chr7:149714784-149714785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2533682	chr7:149714819-149714820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546221073	chr7:149714825-149714826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550207386	chr7:149714838-149714839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28569399	chr7:149714877-149714878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528483111	chr7:149714947-149714948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191452519	chr7:149714948-149714949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183846378	chr7:149714965-149714966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2129055	chr7:149714984-149714985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542513007	chr7:149715059-149715060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555680308	chr7:149715092-149715093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28644775	chr7:149715176-149715177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187033307	chr7:149715183-149715184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192852180	chr7:149715195-149715196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146582869	chr7:149715208-149715209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201287424	chr7:149715253-149715254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2626772	chr7:149715256-149715257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185338730	chr7:149715267-149715268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543163946	chr7:149715298-149715299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111343007	chr7:149715302-149715303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563351446	chr7:149715366-149715367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62503317	chr7:149715367-149715368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs138080979	chr7:149715368-149715369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75890923	chr7:149715376-149715377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150213410	chr7:149715417-149715418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71194687	chr7:149715421-149715422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550920453	chr7:149715435-149715436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199565963	chr7:149715447-149715448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143338224	chr7:149715469-149715470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2628723	chr7:149715613-149715614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536709010	chr7:149715636-149715637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202148894	chr7:149715715-149715716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149701000-149727800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:149713400-149714400	Enhancers	Liver	Liver
3	chr7:149713400-149714400	Enhancers	Pancreas	Pancrea
4	chr7:149714200-149714400	Enhancers	Right Atrium	heart

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