Variant report

Variant	nsv979869
Chromosome Location	chr3:121044012-121045664
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540080876	chr3:121044024-121044025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186800873	chr3:121044033-121044034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532503392	chr3:121044042-121044043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548581400	chr3:121044073-121044074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533704208	chr3:121044103-121044104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189677492	chr3:121044104-121044105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181277448	chr3:121044131-121044132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531758746	chr3:121044169-121044170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533861622	chr3:121044260-121044261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185633473	chr3:121044271-121044272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568674214	chr3:121044298-121044299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527988425	chr3:121044338-121044339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548010275	chr3:121044340-121044341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61796933	chr3:121044390-121044391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549848620	chr3:121044413-121044414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189657685	chr3:121044463-121044464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145014088	chr3:121044526-121044527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568839106	chr3:121044638-121044639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142149438	chr3:121044645-121044646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554137084	chr3:121044658-121044659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574441773	chr3:121044662-121044663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376070833	chr3:121044710-121044711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368552033	chr3:121044723-121044724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553560715	chr3:121044731-121044732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182295870	chr3:121044805-121044806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569725129	chr3:121044828-121044829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567066226	chr3:121044832-121044833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546004867	chr3:121044839-121044840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553855742	chr3:121044846-121044847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201483208	chr3:121044847-121044848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370423111	chr3:121044943-121044944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538725919	chr3:121044958-121044959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186117444	chr3:121044981-121044982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372616388	chr3:121045023-121045024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs207463675	chr3:121045027-121045028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554072064	chr3:121045052-121045053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191990935	chr3:121045069-121045070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113565821	chr3:121045111-121045112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372402909	chr3:121045141-121045142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562015300	chr3:121045144-121045145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183472323	chr3:121045145-121045146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558630514	chr3:121045146-121045147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78955622	chr3:121045174-121045175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376879172	chr3:121045196-121045197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533603603	chr3:121045276-121045277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550092214	chr3:121045295-121045296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568974587	chr3:121045303-121045304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537544613	chr3:121045438-121045439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147795615	chr3:121045463-121045464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188364513	chr3:121045472-121045473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	17953491	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121033600-121052200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:121043200-121049000	Weak transcription	Ovary	ovary

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