Variant report

Variant	nsv9535
Chromosome Location	chr2:35869308-35886089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:35877173..35880679-chr2:35885712..35889508,3	MCF-7	breast:
2	chr2:35863760..35866047-chr2:35869717..35871925,2	MCF-7	breast:
3	chr2:35878984..35880554-chr2:35880811..35883619,2	K562	blood:
4	chr2:35877173..35880679-chr2:35885712..35889508,3	MCF-7	breast:
5	chr2:35878984..35880554-chr2:35880811..35883619,2	K562	blood:

Extended variants
information (count: 828 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:828 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372288831	chr2:35869357-35869358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11690150	chr2:35869371-35869372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576351016	chr2:35869375-35869376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553448869	chr2:35869386-35869387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543431595	chr2:35869426-35869427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114810282	chr2:35869431-35869432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562147686	chr2:35869434-35869435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574778037	chr2:35869464-35869465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541585926	chr2:35869490-35869491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559942552	chr2:35869495-35869496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193086309	chr2:35869506-35869507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7584805	chr2:35869526-35869527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563850809	chr2:35869530-35869531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531262492	chr2:35869531-35869532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7597107	chr2:35869542-35869543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35886201	chr2:35869550-35869551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs386644790	chr2:35869551-35869552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7597113	chr2:35869552-35869553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35618312	chr2:35869553-35869554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547092141	chr2:35869578-35869579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543244432	chr2:35869593-35869594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7597210	chr2:35869617-35869618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113528711	chr2:35869673-35869674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576769696	chr2:35869734-35869735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184055833	chr2:35869745-35869746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7571004	chr2:35869772-35869773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs115944524	chr2:35869784-35869785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111669797	chr2:35869811-35869812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60441971	chr2:35869814-35869815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72208638	chr2:35869815-35869816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188257660	chr2:35869896-35869897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76415299	chr2:35869932-35869933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74861921	chr2:35869942-35869943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578199131	chr2:35869984-35869985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369081244	chr2:35870020-35870021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545593355	chr2:35870025-35870026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563938899	chr2:35870031-35870032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563422905	chr2:35870040-35870041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555774775	chr2:35870046-35870047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192146814	chr2:35870047-35870048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150922710	chr2:35870130-35870131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561478861	chr2:35870179-35870180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140718299	chr2:35870204-35870205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547054727	chr2:35870215-35870216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530605892	chr2:35870288-35870289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115617605	chr2:35870302-35870303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1401232	chr2:35870307-35870308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184449060	chr2:35870345-35870346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1401233	chr2:35870365-35870366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs79577459	chr2:35870423-35870424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35860000-35891000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35876000-35876800	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr2:35876200-35878600	Enhancers	Fetal Intestine Large	intestine
4	chr2:35876600-35877200	Enhancers	Fetal Intestine Small	intestine
5	chr2:35876800-35877200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr2:35876800-35877200	Enhancers	Small Intestine	intestine
7	chr2:35877000-35877600	Enhancers	Liver	Liver

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