Variant report

Variant	nsv965113
Chromosome Location	chr3:109375855-109390943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 185 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:185 , 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	rs79749534	chr3:109375862-109375863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75082677	chr3:109375925-109375926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535664496	chr3:109375940-109375941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570721648	chr3:109375976-109375977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540080280	chr3:109376001-109376002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147324350	chr3:109376027-109376028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572766105	chr3:109376052-109376053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139246162	chr3:109376053-109376054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555427017	chr3:109376119-109376120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1732205	chr3:109376120-109376121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs143168716	chr3:109376144-109376145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564231193	chr3:109376250-109376251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114804868	chr3:109376285-109376286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540491824	chr3:109376288-109376289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560202182	chr3:109376310-109376311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201123666	chr3:109376318-109376319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529222012	chr3:109376322-109376323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182875023	chr3:109376344-109376345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147170298	chr3:109376356-109376357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557187181	chr3:109376410-109376411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201341775	chr3:109376414-109376415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377050363	chr3:109376436-109376437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1122041	chr3:109376449-109376450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1121961	chr3:109376457-109376458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187904611	chr3:109376557-109376558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570685342	chr3:109376583-109376584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539663413	chr3:109376598-109376599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192428809	chr3:109376608-109376609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557852561	chr3:109376642-109376643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs5851665	chr3:109376670-109376671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397808829	chr3:109376679-109376680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567034991	chr3:109376712-109376713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75048646	chr3:109376723-109376724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555390077	chr3:109376724-109376725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60294992	chr3:109376737-109376738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs375919251	chr3:109376765-109376766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557908047	chr3:109376771-109376772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577731861	chr3:109376773-109376774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184530672	chr3:109376818-109376819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555912319	chr3:109376838-109376839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573843820	chr3:109376866-109376867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187544925	chr3:109376876-109376877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561700569	chr3:109376903-109376904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9810805	chr3:109376951-109376952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370354184	chr3:109376967-109376968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79639940	chr3:109376970-109376971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13061168	chr3:109377057-109377058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533498757	chr3:109377061-109377062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1729644	chr3:109377112-109377113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs367562837	chr3:109377127-109377128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
T-cell acute lymphoblastic leukemia	19406988	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109374600-109378400	Weak transcription	Pancreas	Pancrea
2	chr3:109375200-109376000	Enhancers	Liver	Liver
3	chr3:109375400-109378600	Weak transcription	Aorta	Aorta
4	chr3:109375800-109380600	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:109378600-109378800	Enhancers	Pancreas	Pancrea
6	chr3:109378600-109379000	ZNF genes & repeats	Aorta	Aorta
7	chr3:109380200-109380600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:109380400-109380800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:109380600-109380800	Enhancers	Colon Smooth Muscle	Colon
10	chr3:109380800-109381400	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:109381400-109381600	Enhancers	Colon Smooth Muscle	Colon

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