Variant report

Variant	nsv590781
Chromosome Location	chr3:82707769-82766788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 532 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7622157	chr3:82720624-82720625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544012380	chr3:82720635-82720636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564007054	chr3:82720644-82720645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187553965	chr3:82720657-82720658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532847535	chr3:82720670-82720671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192767180	chr3:82720678-82720679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552651947	chr3:82720682-82720683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565888581	chr3:82720762-82720763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2035185	chr3:82720792-82720793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78820568	chr3:82720809-82720810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568519181	chr3:82720946-82720947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7610983	chr3:82720953-82720954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556727292	chr3:82720975-82720976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559954018	chr3:82720980-82720981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140996520	chr3:82725260-82725261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576274198	chr3:82725323-82725324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376735442	chr3:82725386-82725387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149790000	chr3:82725401-82725402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147936763	chr3:82725444-82725445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11925824	chr3:82725451-82725452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182759296	chr3:82725468-82725469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80159050	chr3:82725525-82725526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113723838	chr3:82725667-82725668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187310362	chr3:82725673-82725674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193201967	chr3:82725678-82725679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562765786	chr3:82725747-82725748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531815558	chr3:82725753-82725754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7626250	chr3:82725784-82725785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547713840	chr3:82725819-82725820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373432640	chr3:82725874-82725875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185524420	chr3:82725876-82725877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375305798	chr3:82725888-82725889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547777356	chr3:82725912-82725913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567517619	chr3:82725917-82725918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536763132	chr3:82725949-82725950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78216797	chr3:82725956-82725957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113337143	chr3:82725964-82725965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386662955	chr3:82726010-82726011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71616426	chr3:82726011-82726012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372026582	chr3:82726012-82726013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113104238	chr3:82726023-82726024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71112044	chr3:82726028-82726029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs58164008	chr3:82726030-82726031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs202106009	chr3:82726031-82726032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200208222	chr3:82726034-82726035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375174228	chr3:82726043-82726044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189094054	chr3:82726074-82726075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75137157	chr3:82726091-82726092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558471571	chr3:82726135-82726136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572310146	chr3:82726160-82726161	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82720600-82721000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:82725200-82726200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr3:82725800-82726400	Enhancers	HMEC	breast
4	chr3:82727200-82727800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:82727600-82728000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:82727800-82731400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:82731400-82731600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:82731600-82737200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:82734600-82735800	Enhancers	NH-A	brain
10	chr3:82737200-82737600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:82737200-82737600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:82756200-82756800	Enhancers	Dnd41	blood
13	chr3:82758200-82758800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:82758200-82759000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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