Variant report

Variant	nsv525840
Chromosome Location	chr3:20643480-20644662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6766464	chr3:20643480-20643481	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs143621709	chr3:20643489-20643490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557879899	chr3:20643491-20643492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573293177	chr3:20643496-20643497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115196173	chr3:20643501-20643502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562129817	chr3:20643509-20643510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548633280	chr3:20643561-20643562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9846771	chr3:20643574-20643575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs9827006	chr3:20643591-20643592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148081340	chr3:20643610-20643611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557591351	chr3:20643625-20643626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185502996	chr3:20643663-20643664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190426934	chr3:20643673-20643674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143856501	chr3:20643680-20643681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191245559	chr3:20643709-20643710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35509686	chr3:20643755-20643756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183802832	chr3:20643762-20643763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9864698	chr3:20643879-20643880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535065357	chr3:20643996-20643997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188469756	chr3:20644013-20644014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568811010	chr3:20644047-20644048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539303227	chr3:20644056-20644057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557944343	chr3:20644069-20644070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556465763	chr3:20644073-20644074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4858234	chr3:20644092-20644093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534325395	chr3:20644095-20644096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11714456	chr3:20644103-20644104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574013535	chr3:20644112-20644113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181314398	chr3:20644124-20644125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562047506	chr3:20644133-20644134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562823714	chr3:20644237-20644238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376300423	chr3:20644244-20644245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11710467	chr3:20644276-20644277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545681209	chr3:20644281-20644282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560757176	chr3:20644298-20644299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527857205	chr3:20644366-20644367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554234393	chr3:20644369-20644370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184843859	chr3:20644377-20644378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147263717	chr3:20644401-20644402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574698654	chr3:20644537-20644538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550167886	chr3:20644549-20644550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568476533	chr3:20644560-20644561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539364604	chr3:20644580-20644581	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20639800-20644400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:20644400-20644600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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