Variant report

Variant	nsv522010
Chromosome Location	chr3:111121960-111131512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1529068	chr3:111121960-111121961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530129392	chr3:111121994-111121995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539702602	chr3:111122020-111122021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549902941	chr3:111122024-111122025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546132573	chr3:111122041-111122042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71315877	chr3:111122101-111122102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569471174	chr3:111122130-111122131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532207879	chr3:111122156-111122157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76125206	chr3:111122212-111122213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183580636	chr3:111122229-111122230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112628284	chr3:111122320-111122321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141398110	chr3:111122361-111122362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373968130	chr3:111122368-111122369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150405853	chr3:111122372-111122373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534950103	chr3:111122414-111122415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189336899	chr3:111122421-111122422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568111255	chr3:111122435-111122436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537136647	chr3:111122440-111122441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6783611	chr3:111122456-111122457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs200471497	chr3:111122483-111122484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558581805	chr3:111122484-111122485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377252895	chr3:111122491-111122492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182389834	chr3:111122507-111122508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545294611	chr3:111122509-111122510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528819933	chr3:111122567-111122568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572635728	chr3:111122603-111122604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201316368	chr3:111122631-111122632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1498006	chr3:111122677-111122678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114354527	chr3:111122712-111122713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187198949	chr3:111122745-111122746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530044663	chr3:111122849-111122850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369701684	chr3:111122881-111122882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540615318	chr3:111123035-111123036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13321080	chr3:111123075-111123076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191681132	chr3:111123076-111123077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532297233	chr3:111123090-111123091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142850391	chr3:111123110-111123111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146100455	chr3:111123115-111123116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544442398	chr3:111123120-111123121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548546737	chr3:111123146-111123147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562640373	chr3:111123182-111123183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79042842	chr3:111123209-111123210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557065134	chr3:111123284-111123285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2698352	chr3:111123299-111123300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181655794	chr3:111123314-111123315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558880634	chr3:111123321-111123322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74931191	chr3:111123332-111123333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534945373	chr3:111123344-111123345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115418777	chr3:111123354-111123355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574461892	chr3:111123359-111123360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111119200-111124000	Weak transcription	Aorta	Aorta
2	chr3:111124000-111124800	ZNF genes & repeats	Aorta	Aorta

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