Variant report

Variant	nsv961781
Chromosome Location	chr2:63911442-63916913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 185 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147630110	chr2:63911471-63911472	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34697459	chr2:63911477-63911478	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6723875	chr2:63911500-63911501	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs61609156	chr2:63911509-63911510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142275526	chr2:63911525-63911526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111294450	chr2:63911531-63911532	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531592575	chr2:63911545-63911546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145918446	chr2:63911556-63911557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548758127	chr2:63911590-63911591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556931687	chr2:63911613-63911614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370528741	chr2:63911657-63911658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561835512	chr2:63911665-63911666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13410065	chr2:63911676-63911677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192455163	chr2:63911679-63911680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565746064	chr2:63911682-63911683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532932348	chr2:63911760-63911761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11125981	chr2:63911761-63911762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs569794967	chr2:63911772-63911773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538103646	chr2:63911802-63911803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556462778	chr2:63911809-63911810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2054120	chr2:63911816-63911817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535640411	chr2:63911829-63911830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553988515	chr2:63911873-63911874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577281528	chr2:63911917-63911918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142825169	chr2:63911993-63911994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545988659	chr2:63911997-63911998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558084056	chr2:63912097-63912098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576380217	chr2:63912101-63912102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543705962	chr2:63912131-63912132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536427269	chr2:63912146-63912147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183628193	chr2:63912174-63912175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116709621	chr2:63912176-63912177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143486463	chr2:63912227-63912228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188623049	chr2:63912228-63912229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554604374	chr2:63912271-63912272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551192284	chr2:63912335-63912336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2168275	chr2:63912336-63912337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs554124063	chr2:63912343-63912344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148018517	chr2:63912393-63912394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548606420	chr2:63912450-63912451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373464652	chr2:63912504-63912505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535783131	chr2:63912581-63912582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377589845	chr2:63912613-63912614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397873523	chr2:63912616-63912617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376502259	chr2:63912627-63912628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192731871	chr2:63912638-63912639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539892017	chr2:63912651-63912652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184705632	chr2:63912653-63912654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557984603	chr2:63912706-63912707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576644060	chr2:63912716-63912717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
lymphocytic leukemia	21291569	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
Acute lymphoblastic leukemia	20435627	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
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63908800-63923400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:63909200-63925600	Weak transcription	Psoas Muscle	Psoas
3	chr2:63911400-63911600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:63911400-63911600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:63911600-63912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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