Variant report

Variant	nsv962091
Chromosome Location	chr2:186692378-186697441
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578016105	chr2:186693202-186693203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545430043	chr2:186693217-186693218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560275001	chr2:186693277-186693278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192588795	chr2:186693291-186693292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372039643	chr2:186693308-186693309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572291330	chr2:186693374-186693375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549289891	chr2:186693385-186693386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561213592	chr2:186693406-186693407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531823537	chr2:186693414-186693415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184110866	chr2:186693423-186693424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374856523	chr2:186693457-186693458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568982394	chr2:186693460-186693461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539151048	chr2:186693496-186693497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551415592	chr2:186693514-186693515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368449454	chr2:186693567-186693568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140316000	chr2:186693573-186693574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2193821	chr2:186693590-186693591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs2193820	chr2:186693608-186693609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576040416	chr2:186693644-186693645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573966771	chr2:186693703-186693704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144234669	chr2:186693759-186693760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556387683	chr2:186693773-186693774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578076714	chr2:186693777-186693778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545523274	chr2:186693852-186693853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545178204	chr2:186693864-186693865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554213397	chr2:186693871-186693872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543320901	chr2:186693907-186693908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111482517	chr2:186694009-186694010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs16827202	chr2:186694044-186694045	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs148914771	chr2:186694079-186694080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531880542	chr2:186694121-186694122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543650237	chr2:186694134-186694135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368959629	chr2:186694206-186694207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114976534	chr2:186694207-186694208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142610679	chr2:186694221-186694222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551208585	chr2:186694257-186694258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17827241	chr2:186694258-186694259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs562009649	chr2:186694267-186694268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527316838	chr2:186694287-186694288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150986069	chr2:186694302-186694303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547712824	chr2:186694414-186694415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188456399	chr2:186694571-186694572	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186693200-186694600	Enhancers	Stomach Mucosa	stomach
2	chr2:186694200-186694600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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