Variant report

Variant	nsv980015
Chromosome Location	chr3:82687963-82707181
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	chr12:6500232..6500748-chr3:82698547..82699324,2	MCF-7	breast:

Extended variants
information (count: 333 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115056795	chr3:82689454-82689455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150227105	chr3:82689490-82689491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372999340	chr3:82689498-82689499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182168693	chr3:82689499-82689500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1598119	chr3:82689547-82689548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577170856	chr3:82689548-82689549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73842285	chr3:82689577-82689578	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574914401	chr3:82689579-82689580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140232885	chr3:82689651-82689652	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559901537	chr3:82689677-82689678	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114763763	chr3:82689737-82689738	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542321945	chr3:82689787-82689788	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561966848	chr3:82689822-82689823	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530611519	chr3:82689877-82689878	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373140973	chr3:82689915-82689916	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148991099	chr3:82689923-82689924	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540726308	chr3:82689962-82689963	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534270456	chr3:82689972-82689973	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532790305	chr3:82689988-82689989	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1840288	chr3:82689998-82689999	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566106727	chr3:82690003-82690004	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1840289	chr3:82690005-82690006	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147087015	chr3:82690014-82690015	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112116152	chr3:82690023-82690024	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537200901	chr3:82690026-82690027	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187148587	chr3:82690102-82690103	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116427338	chr3:82690164-82690165	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370047395	chr3:82690169-82690170	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190910785	chr3:82690172-82690173	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144104675	chr3:82690176-82690177	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146894731	chr3:82690213-82690214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562002068	chr3:82690280-82690281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575401637	chr3:82690319-82690320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372204665	chr3:82690333-82690334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4515057	chr3:82690345-82690346	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs116288038	chr3:82690354-82690355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs202129861	chr3:82690363-82690364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546484228	chr3:82690409-82690410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73842291	chr3:82690432-82690433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs113670821	chr3:82690466-82690467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554046875	chr3:82690485-82690486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373573381	chr3:82690487-82690488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537667410	chr3:82690498-82690499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550928225	chr3:82690499-82690500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571003624	chr3:82690515-82690516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78675613	chr3:82690546-82690547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200114323	chr3:82690548-82690549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540184482	chr3:82690550-82690551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553694885	chr3:82690586-82690587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573285777	chr3:82690615-82690616	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82689400-82692800	Enhancers	HMEC	breast
2	chr3:82689600-82690200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:82689800-82692600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:82690200-82691800	Enhancers	NHEK	skin
5	chr3:82690600-82691400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:82699400-82699600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:82699600-82700400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:82703800-82704400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:82703800-82704400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:82703800-82704400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:82704400-82705600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:82704400-82705600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:82705600-82706000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:82705600-82706800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:82706000-82706600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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