Variant report

Variant	nsv873867
Chromosome Location	chr2:35926513-35949788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 549 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186971332	chr2:35937207-35937208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575886846	chr2:35937234-35937235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191865835	chr2:35937305-35937306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17017304	chr2:35937343-35937344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs183460425	chr2:35937386-35937387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs965331	chr2:35937419-35937420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547362048	chr2:35937420-35937421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188185031	chr2:35937439-35937440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181959298	chr2:35937441-35937442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs965332	chr2:35937488-35937489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528943975	chr2:35937560-35937561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145827741	chr2:35937570-35937571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185762019	chr2:35937573-35937574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562094555	chr2:35937613-35937614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569704066	chr2:35937630-35937631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532762283	chr2:35937640-35937641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536763649	chr2:35937653-35937654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373757382	chr2:35937697-35937698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548726718	chr2:35937710-35937711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9308980	chr2:35937722-35937723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs11680795	chr2:35937743-35937744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs35680315	chr2:35937744-35937745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397736789	chr2:35937745-35937746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181818847	chr2:35937756-35937757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577943964	chr2:35937780-35937781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78209682	chr2:35937798-35937799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186283680	chr2:35937823-35937824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575776762	chr2:35937853-35937854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12468565	chr2:35937896-35937897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561423469	chr2:35937920-35937921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145364651	chr2:35937923-35937924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540551849	chr2:35937957-35937958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34143662	chr2:35937974-35937975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570332210	chr2:35938009-35938010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371246596	chr2:35938017-35938018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374806050	chr2:35938018-35938019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190066471	chr2:35938037-35938038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71394593	chr2:35938042-35938043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12468609	chr2:35938043-35938044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12472870	chr2:35938060-35938061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114851483	chr2:35938064-35938065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369217301	chr2:35938077-35938078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202175634	chr2:35938094-35938095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77859465	chr2:35938099-35938100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs67446243	chr2:35938100-35938101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397703463	chr2:35938103-35938104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12473677	chr2:35938151-35938152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181310845	chr2:35938165-35938166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12477470	chr2:35938169-35938170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs149050868	chr2:35938221-35938222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35937200-35955200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35943200-35943400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:35947200-35947600	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links