Variant report

Variant	nsv963520
Chromosome Location	chr3:79454627-79458934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139043438	chr3:79454649-79454650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143992854	chr3:79454666-79454667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187056019	chr3:79454730-79454731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146451433	chr3:79454745-79454746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566310689	chr3:79454762-79454763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73848875	chr3:79454807-79454808	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576442881	chr3:79454855-79454856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111303423	chr3:79454898-79454899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566254665	chr3:79454930-79454931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577698590	chr3:79454986-79454987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59127272	chr3:79454987-79454988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548757064	chr3:79455077-79455078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569442993	chr3:79455082-79455083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538044485	chr3:79455086-79455087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149072263	chr3:79455111-79455112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571584918	chr3:79455154-79455155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533963753	chr3:79455178-79455179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535181696	chr3:79455189-79455190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553773844	chr3:79455269-79455270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34875224	chr3:79455399-79455400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573908079	chr3:79455413-79455414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562606408	chr3:79455463-79455464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11919036	chr3:79455491-79455492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556374885	chr3:79455537-79455538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71324668	chr3:79455544-79455545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544400265	chr3:79455558-79455559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140159104	chr3:79455560-79455561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192392396	chr3:79455566-79455567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578010662	chr3:79455568-79455569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143121928	chr3:79455572-79455573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560096030	chr3:79455602-79455603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528841471	chr3:79455704-79455705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549100828	chr3:79455706-79455707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146681897	chr3:79455737-79455738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117176487	chr3:79455785-79455786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531814037	chr3:79455802-79455803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151205396	chr3:79455825-79455826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183346884	chr3:79455837-79455838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187640365	chr3:79455842-79455843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114954263	chr3:79455847-79455848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567694389	chr3:79455848-79455849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536249648	chr3:79455855-79455856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556647890	chr3:79455874-79455875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576445703	chr3:79455953-79455954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539101351	chr3:79455954-79455955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556806712	chr3:79455973-79455974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564753898	chr3:79455998-79455999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115783875	chr3:79456016-79456017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573576355	chr3:79456018-79456019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140315171	chr3:79456079-79456080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79454000-79455200	Enhancers	Liver	Liver
2	chr3:79455200-79458600	Weak transcription	Liver	Liver
3	chr3:79458600-79463000	Enhancers	Liver	Liver
4	chr3:79458800-79459000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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