Variant report

Variant	nsv1006674
Chromosome Location	chr3:78472060-78491410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 248 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115589696	chr3:78472064-78472065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17016069	chr3:78472085-78472086	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs372911726	chr3:78472098-78472099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9812819	chr3:78472139-78472140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145451587	chr3:78472160-78472161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148409701	chr3:78472252-78472253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568804763	chr3:78472259-78472260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537644719	chr3:78472267-78472268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561907849	chr3:78472268-78472269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191120747	chr3:78472277-78472278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142560285	chr3:78472328-78472329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73111845	chr3:78472337-78472338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547539661	chr3:78472360-78472361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150967546	chr3:78472403-78472404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574127996	chr3:78472453-78472454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183134045	chr3:78472490-78472491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73846527	chr3:78472497-78472498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569272557	chr3:78472511-78472512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576631112	chr3:78472550-78472551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545294725	chr3:78472562-78472563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565444050	chr3:78472567-78472568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527867181	chr3:78472570-78472571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140808082	chr3:78472572-78472573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559814886	chr3:78472581-78472582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528899372	chr3:78472639-78472640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548520370	chr3:78472659-78472660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568831330	chr3:78472689-78472690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541710583	chr3:78472707-78472708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376939402	chr3:78472732-78472733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535758369	chr3:78472735-78472736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186460885	chr3:78472763-78472764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571445872	chr3:78472770-78472771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563954305	chr3:78472870-78472871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533744888	chr3:78472875-78472876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369866329	chr3:78472906-78472907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190846753	chr3:78472908-78472909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574142113	chr3:78472916-78472917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373042879	chr3:78472917-78472918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115509594	chr3:78472918-78472919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17364402	chr3:78472919-78472920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182230446	chr3:78472941-78472942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538277580	chr3:78472951-78472952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558965697	chr3:78473030-78473031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549477808	chr3:78473037-78473038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572648074	chr3:78473043-78473044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541219438	chr3:78473102-78473103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559827254	chr3:78473106-78473107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7626026	chr3:78473138-78473139	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376876736	chr3:78473154-78473155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187725100	chr3:78473166-78473167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16912164	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78471000-78472400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr3:78471400-78472600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:78472400-78473200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:78473000-78473200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:78473200-78473400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:78475400-78476000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr3:78486800-78487000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:78487200-78490600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:78490600-78491200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:78491200-78496200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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