Variant report

Variant	nsv1004751
Chromosome Location	chr3:83179352-83225374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:83218573..83221000-chr3:83236194..83238608,2	MCF-7	breast:
2	chr3:83214717..83216507-chr3:83229248..83232091,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11917798	chr3:83193628-83193629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571300982	chr3:83193651-83193652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546075222	chr3:83193668-83193669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547097978	chr3:83193718-83193719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12636715	chr3:83193719-83193720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547240890	chr3:83193834-83193835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138277075	chr3:83193888-83193889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556013387	chr3:83193924-83193925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11917906	chr3:83193951-83193952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538412849	chr3:83193988-83193989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149624848	chr3:83194001-83194002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558040439	chr3:83194006-83194007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368617799	chr3:83194095-83194096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540692123	chr3:83194096-83194097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371591879	chr3:83194102-83194103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180852219	chr3:83194138-83194139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568436267	chr3:83194167-83194168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143949285	chr3:83194179-83194180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186725935	chr3:83200007-83200008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558590348	chr3:83200040-83200041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191577154	chr3:83200047-83200048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553245680	chr3:83200062-83200063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375486043	chr3:83200085-83200086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183259596	chr3:83200105-83200106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536165412	chr3:83200161-83200162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187987308	chr3:83200165-83200166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9850049	chr3:83200166-83200167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs534825783	chr3:83200180-83200181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114491369	chr3:83200192-83200193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571454321	chr3:83200208-83200209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11278650	chr3:83200244-83200245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78278579	chr3:83200250-83200251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199766138	chr3:83200251-83200252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558329677	chr3:83200302-83200303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578063146	chr3:83200317-83200318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540665300	chr3:83200327-83200328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560460424	chr3:83200353-83200354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529147257	chr3:83200355-83200356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553634595	chr3:83215600-83215601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376160434	chr3:83215621-83215622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533880865	chr3:83215623-83215624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577039620	chr3:83215687-83215688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367608145	chr3:83215688-83215689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146267096	chr3:83215700-83215701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551693045	chr3:83215728-83215729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185355439	chr3:83215744-83215745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555642698	chr3:83215761-83215762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536160479	chr3:83215782-83215783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555891202	chr3:83215790-83215791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7622155	chr3:83215801-83215802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83193600-83194200	Enhancers	Dnd41	blood
2	chr3:83200000-83200400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:83215600-83216000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr3:83215600-83216200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:83215800-83216400	Enhancers	H1 Cell Line	embryonic stem cell

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