Variant report

Variant	nsv518450
Chromosome Location	chr2:35711861-35779358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:35721064..35722615-chr2:35725696..35727810,2	MCF-7	breast:
2	chr2:35721064..35722615-chr2:35725696..35727810,2	MCF-7	breast:
3	chr2:35694136..35697118-chr2:35710618..35713142,3	MCF-7	breast:
4	chr14:33621149..33624012-chr2:35726795..35729641,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207255	chromatin interactions
ENSG00000265301	chromatin interactions
ENSG00000229013	chromatin interactions

Extended variants
information (count: 1786 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1786 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4619588	chr2:35711861-35711862	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372781546	chr2:35711873-35711874	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs558897659	chr2:35711946-35711947	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs142922737	chr2:35711989-35711990	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs545368234	chr2:35712009-35712010	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs12185690	chr2:35712044-35712045	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191456729	chr2:35712065-35712066	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs55764080	chr2:35712069-35712070	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs184662984	chr2:35712076-35712077	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs375519207	chr2:35712095-35712096	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs567319189	chr2:35712128-35712129	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs146619060	chr2:35712138-35712139	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs549596496	chr2:35712145-35712146	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs79226443	chr2:35712180-35712181	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs538244912	chr2:35712191-35712192	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs558083165	chr2:35712214-35712215	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs12185698	chr2:35712222-35712223	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs115354009	chr2:35712231-35712232	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs534193647	chr2:35712245-35712246	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs554370815	chr2:35712302-35712303	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs574134684	chr2:35712321-35712322	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs543235792	chr2:35712339-35712340	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs536793603	chr2:35712369-35712370	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs28791289	chr2:35712390-35712391	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4399704	chr2:35712404-35712405	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545426927	chr2:35712425-35712426	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs565244030	chr2:35712433-35712434	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs143299487	chr2:35712434-35712435	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs552689498	chr2:35712435-35712436	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs570865921	chr2:35712477-35712478	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs572324625	chr2:35712516-35712517	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs4313955	chr2:35712543-35712544	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561172592	chr2:35712588-35712589	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs529842243	chr2:35712602-35712603	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs549514181	chr2:35712607-35712608	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs4425057	chr2:35712608-35712609	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532038747	chr2:35712630-35712631	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs146701638	chr2:35712645-35712646	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs565513346	chr2:35712658-35712659	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs140058456	chr2:35712669-35712670	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs191979494	chr2:35712694-35712695	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs185238602	chr2:35712707-35712708	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs78331082	chr2:35712745-35712746	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs74848910	chr2:35712749-35712750	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs201011178	chr2:35712750-35712751	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs565693986	chr2:35712772-35712773	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs112617153	chr2:35712783-35712784	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs375738954	chr2:35712784-35712785	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs536238079	chr2:35712785-35712786	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs554394158	chr2:35712855-35712856	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35720200-35720600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:35720200-35721000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:35720200-35721000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:35720200-35721000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:35720200-35721000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:35720200-35721000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:35720200-35721200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:35725800-35728000	Enhancers	HUVEC	blood vessel
9	chr2:35726000-35727000	Enhancers	HMEC	breast
10	chr2:35726000-35727200	Enhancers	Hela-S3	cervix
11	chr2:35727000-35728200	Weak transcription	HMEC	breast
12	chr2:35727200-35728400	Weak transcription	Hela-S3	cervix
13	chr2:35727600-35728800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:35728000-35728800	Flanking Active TSS	HUVEC	blood vessel
15	chr2:35728000-35730000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:35728200-35730400	Enhancers	HMEC	breast
17	chr2:35728400-35729800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:35728400-35729800	Enhancers	Hela-S3	cervix
19	chr2:35728600-35729800	Enhancers	NHEK	skin
20	chr2:35728800-35729200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:35728800-35729200	Enhancers	HUVEC	blood vessel
22	chr2:35729200-35729400	Flanking Active TSS	HUVEC	blood vessel
23	chr2:35729200-35730400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:35729400-35730400	Enhancers	HUVEC	blood vessel
25	chr2:35730400-35733600	Weak transcription	HUVEC	blood vessel
26	chr2:35730400-35735600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:35730400-35735600	Weak transcription	HMEC	breast
28	chr2:35733600-35735600	Enhancers	HUVEC	blood vessel
29	chr2:35735600-35736200	Flanking Active TSS	HUVEC	blood vessel
30	chr2:35735600-35736400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:35735600-35736400	Enhancers	HMEC	breast
32	chr2:35735800-35736200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:35735800-35736200	Enhancers	Adipose Nuclei	Adipose
34	chr2:35735800-35736400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:35736200-35736800	Enhancers	HUVEC	blood vessel
36	chr2:35736400-35739800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:35739800-35740200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:35741000-35743000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:35743000-35743800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:35743800-35747600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:35743800-35754600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:35747000-35748000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:35747000-35748200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:35747000-35748200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:35747200-35747800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:35747200-35748000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:35747600-35748000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:35747800-35748200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr2:35747800-35748400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr2:35748200-35749000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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