Variant report

Variant	nsv963332
Chromosome Location	chr3:75386915-75387736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545992777	chr3:75386932-75386933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190956839	chr3:75386963-75386964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528543593	chr3:75387001-75387002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375100538	chr3:75387011-75387012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112049502	chr3:75387030-75387031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570777480	chr3:75387069-75387070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369700300	chr3:75387070-75387071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551248766	chr3:75387098-75387099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562948361	chr3:75387115-75387116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533560278	chr3:75387134-75387135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551232915	chr3:75387190-75387191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566537665	chr3:75387232-75387233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539174881	chr3:75387290-75387291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533574038	chr3:75387316-75387317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557398179	chr3:75387326-75387327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149731239	chr3:75387330-75387331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116793397	chr3:75387339-75387340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566898006	chr3:75387363-75387364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151106592	chr3:75387373-75387374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376708557	chr3:75387383-75387384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141101940	chr3:75387389-75387390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4677503	chr3:75387457-75387458	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556277114	chr3:75387466-75387467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182655692	chr3:75387480-75387481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186978041	chr3:75387489-75387490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149812133	chr3:75387530-75387531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190684613	chr3:75387542-75387543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574042455	chr3:75387561-75387562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182724345	chr3:75387580-75387581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563192058	chr3:75387592-75387593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533388241	chr3:75387609-75387610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189089984	chr3:75387616-75387617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193032661	chr3:75387677-75387678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184562480	chr3:75387679-75387680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77775238	chr3:75387701-75387702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566935537	chr3:75387715-75387716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537440355	chr3:75387716-75387717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146861037	chr3:75387719-75387720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571498701	chr3:75387728-75387729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	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
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	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
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75381800-75389800	Weak transcription	Right Atrium	heart
2	chr3:75382600-75389800	Weak transcription	Spleen	Spleen
3	chr3:75385800-75387200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:75386800-75388000	Enhancers	GM12878-XiMat	blood
5	chr3:75387200-75387400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:75387200-75389800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:75387400-75389800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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