Variant report

Variant	nsv520310
Chromosome Location	chr3:109677854-109689638
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	chr3:109682867..109683387-chr5:36941291..36942072,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 58 )

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	rs187087756	chr3:109679626-109679627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192300565	chr3:109679673-109679674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527673280	chr3:109679688-109679689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547900776	chr3:109679707-109679708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184515258	chr3:109679708-109679709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188881986	chr3:109679729-109679730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73851068	chr3:109679772-109679773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193107111	chr3:109679786-109679787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570368281	chr3:109679854-109679855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557190161	chr3:109679888-109679889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3844045	chr3:109679912-109679913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185549677	chr3:109679917-109679918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566042316	chr3:109679919-109679920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565712454	chr3:109679924-109679925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534300859	chr3:109679940-109679941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372847935	chr3:109680023-109680024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576157488	chr3:109680057-109680058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574413124	chr3:109680061-109680062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189246023	chr3:109680069-109680070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs662181	chr3:109680090-109680091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576622444	chr3:109680114-109680115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180792258	chr3:109680122-109680123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34478295	chr3:109680198-109680199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114494282	chr3:109680342-109680343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572427927	chr3:109680464-109680465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147717596	chr3:109680502-109680503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372442453	chr3:109680507-109680508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561444716	chr3:109680535-109680536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368659755	chr3:109680568-109680569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527899803	chr3:109686428-109686429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547631359	chr3:109686430-109686431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567846752	chr3:109686478-109686479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374718195	chr3:109686508-109686509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201131544	chr3:109686532-109686533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536989334	chr3:109686579-109686580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9845253	chr3:109686614-109686615	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs200159235	chr3:109686635-109686636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147045791	chr3:109686642-109686643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538610392	chr3:109686699-109686700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371338185	chr3:109686733-109686734	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109679600-109680600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:109679600-109680600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr3:109686400-109686800	Enhancers	HUES64 Cell Line	embryonic stem cell

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