Variant report

Variant	nsv9735
Chromosome Location	chr2:51509683-51511465
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554327055	chr2:51509706-51509707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192520845	chr2:51509715-51509716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115377663	chr2:51509719-51509720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2193398	chr2:51509735-51509736	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs72832138	chr2:51509736-51509737	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs541151340	chr2:51509813-51509814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184796334	chr2:51509842-51509843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145199083	chr2:51509910-51509911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188498402	chr2:51509938-51509939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561467094	chr2:51509955-51509956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531911767	chr2:51510000-51510001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550406767	chr2:51510001-51510002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10541877	chr2:51510007-51510008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571564723	chr2:51510009-51510010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371711903	chr2:51510027-51510028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538993667	chr2:51510063-51510064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547364514	chr2:51510085-51510086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565869282	chr2:51510117-51510118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13423784	chr2:51510119-51510120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7425298	chr2:51510144-51510145	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs137948452	chr2:51510146-51510147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76184717	chr2:51510169-51510170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536963172	chr2:51510185-51510186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577658056	chr2:51510187-51510188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140934114	chr2:51510190-51510191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181686255	chr2:51510194-51510195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150110542	chr2:51510206-51510207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138612996	chr2:51510221-51510222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185793501	chr2:51510246-51510247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189467842	chr2:51510247-51510248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182192089	chr2:51510265-51510266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550230987	chr2:51510306-51510307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565602141	chr2:51510407-51510408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532680963	chr2:51510408-51510409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547428197	chr2:51510414-51510415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565733671	chr2:51510438-51510439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536356653	chr2:51510444-51510445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17041503	chr2:51510516-51510517	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10203535	chr2:51510536-51510537	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537278451	chr2:51510566-51510567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187265547	chr2:51510591-51510592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114715474	chr2:51510600-51510601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368466970	chr2:51510604-51510605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375144916	chr2:51510631-51510632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553003885	chr2:51510646-51510647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574448637	chr2:51510692-51510693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149297438	chr2:51510729-51510730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377258484	chr2:51510766-51510767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76622837	chr2:51510767-51510768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575229889	chr2:51510788-51510789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
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
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51502600-51518000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:51509200-51509800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:51509200-51510000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:51509600-51509800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:51509800-51510600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:51509800-51510800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:51509800-51511000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:51510000-51510800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:51510600-51512000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:51510800-51511200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr2:51510800-51511600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:51510800-51511800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:51511000-51511600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:51511000-51511800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:51511200-51511600	Active TSS	Pancreatic Islets	Pancreatic Islet

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