Variant report

Variant	esv3347944
Chromosome Location	chr3:102312462-102314410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563506975	chr3:102312713-102312714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77766831	chr3:102312893-102312894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35556646	chr3:102312920-102312921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193146379	chr3:102312927-102312928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184272917	chr3:102312957-102312958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116775858	chr3:102313004-102313005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566876393	chr3:102313056-102313057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9875369	chr3:102313060-102313061	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs62272551	chr3:102313070-102313071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188611520	chr3:102313128-102313129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374657975	chr3:102313145-102313146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34415058	chr3:102313163-102313164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199897970	chr3:102313190-102313191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535351213	chr3:102313246-102313247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62272552	chr3:102313287-102313288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62272553	chr3:102313289-102313290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35295155	chr3:102313379-102313380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140490405	chr3:102313382-102313383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34032184	chr3:102313410-102313411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1290378	chr3:102313469-102313470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9820082	chr3:102313483-102313484	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563991043	chr3:102313527-102313528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572800291	chr3:102313552-102313553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539806084	chr3:102313577-102313578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78448265	chr3:102313591-102313592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529662183	chr3:102313613-102313614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9876234	chr3:102313617-102313618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10937068	chr3:102313706-102313707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533534381	chr3:102313709-102313710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9837641	chr3:102313781-102313782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566802829	chr3:102313882-102313883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534205000	chr3:102313891-102313892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7650001	chr3:102313926-102313927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574089671	chr3:102313985-102313986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191481530	chr3:102314033-102314034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528506807	chr3:102314065-102314066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535387426	chr3:102314081-102314082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79917382	chr3:102314083-102314084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575112979	chr3:102314085-102314086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9880788	chr3:102314086-102314087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565965903	chr3:102314087-102314088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557844017	chr3:102314102-102314103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545490230	chr3:102314116-102314117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572894577	chr3:102314117-102314118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183679208	chr3:102314142-102314143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189468710	chr3:102314144-102314145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573666241	chr3:102314152-102314153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181939016	chr3:102314154-102314155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145658661	chr3:102314165-102314166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533566711	chr3:102314171-102314172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102312600-102314000	Enhancers	Liver	Liver
2	chr3:102314000-102319200	Weak transcription	Liver	Liver

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