Variant report

Variant	nsv1002111
Chromosome Location	chr2:36293828-36332246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 901 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:901 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553052675	chr2:36293830-36293831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577559802	chr2:36293848-36293849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544812570	chr2:36293851-36293852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80057640	chr2:36293905-36293906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575211906	chr2:36293927-36293928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556198087	chr2:36293945-36293946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs59410687	chr2:36293951-36293952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs367946718	chr2:36293978-36293979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545123435	chr2:36293990-36293991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560700011	chr2:36293994-36293995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528416145	chr2:36294007-36294008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565275426	chr2:36294013-36294014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192218416	chr2:36294088-36294089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115395688	chr2:36294097-36294098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149997273	chr2:36294099-36294100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114173411	chr2:36294100-36294101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569350983	chr2:36294127-36294128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548381242	chr2:36294132-36294133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530178583	chr2:36294144-36294145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374387318	chr2:36294170-36294171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548805416	chr2:36294171-36294172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567290507	chr2:36294181-36294182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145261685	chr2:36294295-36294296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534541719	chr2:36294313-36294314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569911501	chr2:36294314-36294315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559280443	chr2:36294321-36294322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571025841	chr2:36294327-36294328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538641377	chr2:36294337-36294338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77115638	chr2:36294350-36294351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17018122	chr2:36294355-36294356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12712481	chr2:36294364-36294365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12712482	chr2:36294434-36294435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs140006031	chr2:36294502-36294503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186887249	chr2:36294507-36294508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116340852	chr2:36294522-36294523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544605309	chr2:36294526-36294527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562694577	chr2:36294528-36294529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191732602	chr2:36294545-36294546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184131706	chr2:36294578-36294579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560704928	chr2:36294580-36294581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527869375	chr2:36294581-36294582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552458024	chr2:36294586-36294587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143625291	chr2:36294642-36294643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146871408	chr2:36294679-36294680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2634818	chr2:36294685-36294686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568502348	chr2:36294737-36294738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374358843	chr2:36294770-36294771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189632794	chr2:36294771-36294772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574778665	chr2:36294776-36294777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193078173	chr2:36294799-36294800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36288400-36306400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:36301800-36302200	Enhancers	Fetal Brain Female	brain
3	chr2:36303800-36304200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:36314000-36314600	Enhancers	Fetal Brain Female	brain
5	chr2:36318400-36319000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:36319000-36319800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:36319400-36320000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:36319800-36322800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:36324000-36324400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:36324400-36324600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links