Variant report

Variant	nsv589879
Chromosome Location	chr3:20896788-20897703
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112091060	chr3:20896789-20896790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113894060	chr3:20896798-20896799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200491190	chr3:20896803-20896804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375981438	chr3:20896805-20896806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199670767	chr3:20896806-20896807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542613588	chr3:20896815-20896816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62236013	chr3:20896820-20896821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369723740	chr3:20896822-20896823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201115209	chr3:20896831-20896832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138014197	chr3:20896832-20896833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374890790	chr3:20896854-20896855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372395212	chr3:20896866-20896867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112897972	chr3:20896872-20896873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71613642	chr3:20896880-20896881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71613643	chr3:20896903-20896904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528487330	chr3:20896914-20896915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71613644	chr3:20896920-20896921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371334455	chr3:20896923-20896924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199775038	chr3:20896940-20896941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71613645	chr3:20896954-20896955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62236014	chr3:20896957-20896958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148303536	chr3:20896966-20896967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74207434	chr3:20896971-20896972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150982327	chr3:20896974-20896975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71613647	chr3:20896987-20896988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199665679	chr3:20896988-20896989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71613646	chr3:20896991-20896992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs67511183	chr3:20897000-20897001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62236015	chr3:20897005-20897006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71809705	chr3:20897017-20897018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535919250	chr3:20897021-20897022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10575653	chr3:20897034-20897035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62236016	chr3:20897053-20897054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368050567	chr3:20897060-20897061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371165855	chr3:20897063-20897064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113446152	chr3:20897076-20897077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188074388	chr3:20897077-20897078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62236017	chr3:20897090-20897091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62236018	chr3:20897107-20897108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62236019	chr3:20897116-20897117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551477344	chr3:20897137-20897138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201862953	chr3:20897153-20897154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201502635	chr3:20897186-20897187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62236020	chr3:20897189-20897190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs71966818	chr3:20897202-20897203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576759731	chr3:20897209-20897210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200137691	chr3:20897227-20897228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368677822	chr3:20897240-20897241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139477219	chr3:20897241-20897242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540601628	chr3:20897244-20897245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20895600-20899600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:20895800-20899200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:20895800-20899400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:20895800-20899400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:20895800-20899600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:20895800-20901800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:20895800-20901800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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