Variant report

Variant	nsv961762
Chromosome Location	chr2:67327162-67335344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67298780..67301442-chr2:67330726..67332237,2	K562	blood:
2	chr2:67322675..67325580-chr2:67328570..67330772,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199933926	chr2:67334022-67334023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572802874	chr2:67334086-67334087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545165663	chr2:67334091-67334092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564871260	chr2:67334131-67334132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568720378	chr2:67334233-67334234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112037049	chr2:67334234-67334235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544905014	chr2:67334285-67334286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17033086	chr2:67334326-67334327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1921294	chr2:67334338-67334339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139065572	chr2:67334377-67334378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6719951	chr2:67334411-67334412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs184072594	chr2:67334455-67334456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370532124	chr2:67334490-67334491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532459661	chr2:67334505-67334506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552643043	chr2:67334588-67334589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552298229	chr2:67334611-67334612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34817235	chr2:67334649-67334650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147507030	chr2:67334659-67334660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144902082	chr2:67334660-67334661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143024483	chr2:67334727-67334728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537880898	chr2:67334740-67334741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554558307	chr2:67334755-67334756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567419537	chr2:67334764-67334765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536549178	chr2:67334791-67334792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552849989	chr2:67334820-67334821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573042297	chr2:67334849-67334850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187217330	chr2:67334858-67334859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75320667	chr2:67334873-67334874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193164886	chr2:67334906-67334907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575429469	chr2:67334913-67334914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185520226	chr2:67334935-67334936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560944966	chr2:67334937-67334938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35017466	chr2:67334950-67334951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368227138	chr2:67334975-67334976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34133543	chr2:67334980-67334981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530291311	chr2:67334998-67334999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540960048	chr2:67335011-67335012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560514904	chr2:67335032-67335033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150815742	chr2:67335077-67335078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558310783	chr2:67335083-67335084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139626867	chr2:67335193-67335194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568975907	chr2:67335214-67335215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531712389	chr2:67335215-67335216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190836445	chr2:67335221-67335222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548241921	chr2:67335264-67335265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568449701	chr2:67335272-67335273	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67326200-67327200	Enhancers	Colon Smooth Muscle	Colon
2	chr2:67334000-67334200	Enhancers	Fetal Lung	lung
3	chr2:67334200-67334800	Weak transcription	Fetal Lung	lung
4	chr2:67334800-67335400	Enhancers	Fetal Lung	lung
5	chr2:67334800-67335600	Enhancers	Colon Smooth Muscle	Colon
6	chr2:67335000-67335400	Enhancers	Rectal Smooth Muscle	rectum

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