Variant report

Variant	nsv508233
Chromosome Location	chr3:103046350-103057810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201918684	chr3:103055224-103055225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554364398	chr3:103055237-103055238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73849661	chr3:103055244-103055245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191609236	chr3:103055270-103055271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140504806	chr3:103055299-103055300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576327400	chr3:103055330-103055331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150439402	chr3:103055389-103055390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138178088	chr3:103055401-103055402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558989043	chr3:103055421-103055422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558253346	chr3:103055437-103055438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577216458	chr3:103055446-103055447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79226126	chr3:103055449-103055450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200109179	chr3:103055452-103055453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182333480	chr3:103055472-103055473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138202662	chr3:103055482-103055483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559516313	chr3:103055504-103055505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574506641	chr3:103055514-103055515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542148565	chr3:103055523-103055524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541411008	chr3:103055531-103055532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563614223	chr3:103055614-103055615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530810712	chr3:103055665-103055666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9869350	chr3:103055693-103055694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149621172	chr3:103055705-103055706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187581702	chr3:103055713-103055714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547531850	chr3:103055715-103055716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566263553	chr3:103055724-103055725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553042214	chr3:103055727-103055728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565824176	chr3:103055730-103055731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144321385	chr3:103055737-103055738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139361208	chr3:103055745-103055746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193255916	chr3:103055771-103055772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368762680	chr3:103055782-103055783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572015042	chr3:103055806-103055807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561212637	chr3:103055829-103055830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143269790	chr3:103055871-103055872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10511210	chr3:103055872-103055873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185400912	chr3:103055886-103055887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534724809	chr3:103055898-103055899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568076813	chr3:103055938-103055939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552747523	chr3:103055942-103055943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574574961	chr3:103055954-103055955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147535890	chr3:103055955-103055956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190325264	chr3:103055981-103055982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140340481	chr3:103055990-103055991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545743237	chr3:103055995-103055996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565289102	chr3:103056008-103056009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192274620	chr3:103056015-103056016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144186494	chr3:103056039-103056040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150752751	chr3:103056044-103056045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531389667	chr3:103056100-103056101	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103055200-103056000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:103056000-103056400	Enhancers	H9 Cell Line	embryonic stem cell

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