Variant report

Variant	nsv520742
Chromosome Location	chr3:99328145-99331973
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	chr3:99325508..99327428-chr3:99330801..99332344,2	MCF-7	breast:

Extended variants
information (count: 109 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568183051	chr3:99329605-99329606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535577568	chr3:99329606-99329607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76728086	chr3:99329634-99329635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77988952	chr3:99329658-99329659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79214216	chr3:99329662-99329663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116673892	chr3:99329671-99329672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75804966	chr3:99329677-99329678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573490942	chr3:99329684-99329685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540634302	chr3:99329689-99329690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189523176	chr3:99329732-99329733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149668810	chr3:99329750-99329751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541929623	chr3:99329753-99329754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182573643	chr3:99329765-99329766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113255236	chr3:99329797-99329798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564956764	chr3:99329833-99329834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527378486	chr3:99329834-99329835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555646168	chr3:99329838-99329839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72930350	chr3:99329851-99329852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186257302	chr3:99329863-99329864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528405280	chr3:99329888-99329889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199542152	chr3:99329893-99329894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546652752	chr3:99329898-99329899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191921124	chr3:99329907-99329908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535491975	chr3:99329934-99329935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557027671	chr3:99329957-99329958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544531247	chr3:99329966-99329967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144416742	chr3:99329976-99329977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577612104	chr3:99329998-99329999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539603891	chr3:99330028-99330029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114312041	chr3:99330068-99330069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370758039	chr3:99330139-99330140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148809374	chr3:99330196-99330197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7613174	chr3:99330204-99330205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs115343922	chr3:99330213-99330214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550455014	chr3:99330223-99330224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369035833	chr3:99330321-99330322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541892737	chr3:99330322-99330323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142450673	chr3:99330409-99330410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117989720	chr3:99330429-99330430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151308490	chr3:99330433-99330434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79682061	chr3:99330441-99330442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184169248	chr3:99330449-99330450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546858665	chr3:99330450-99330451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187425946	chr3:99330477-99330478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529248307	chr3:99330496-99330497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367891076	chr3:99330497-99330498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192227015	chr3:99330535-99330536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78639284	chr3:99330554-99330555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568975722	chr3:99330620-99330621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182531281	chr3:99330643-99330644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99329600-99333200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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