Variant report

Variant	esv3347480
Chromosome Location	chr3:78323262-78325210
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	chr3:78323381..78324059-chr3:78694746..78695252,2	MCF-7	breast:
2	chr3:78323598..78324250-chr3:78546599..78547180,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191247900	chr3:78323280-78323281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147772393	chr3:78323281-78323282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549177600	chr3:78323287-78323288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569359074	chr3:78323315-78323316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371260782	chr3:78323370-78323371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs867064	chr3:78323372-78323373	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs367655413	chr3:78323399-78323400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571602622	chr3:78323405-78323406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534174659	chr3:78323482-78323483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554051020	chr3:78323487-78323488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141203731	chr3:78323530-78323531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543227617	chr3:78323539-78323540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555147790	chr3:78323566-78323567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575331113	chr3:78323616-78323617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145150290	chr3:78323617-78323618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564117633	chr3:78323631-78323632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181463443	chr3:78323659-78323660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73106246	chr3:78323693-78323694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540492841	chr3:78323736-78323737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560412353	chr3:78323769-78323770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529053068	chr3:78323789-78323790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560752943	chr3:78323802-78323803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549190502	chr3:78323817-78323818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73849021	chr3:78323865-78323866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531736619	chr3:78323878-78323879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200196496	chr3:78323966-78323967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200180036	chr3:78323967-78323968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369429783	chr3:78324010-78324011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551462957	chr3:78324016-78324017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149080412	chr3:78324046-78324047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10651402	chr3:78324063-78324064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs66483645	chr3:78324064-78324065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10663790	chr3:78324068-78324069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571263285	chr3:78324073-78324074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186051761	chr3:78324080-78324081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34664724	chr3:78324138-78324139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189988279	chr3:78324147-78324148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183301978	chr3:78324148-78324149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186346986	chr3:78324169-78324170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191070736	chr3:78324183-78324184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367999674	chr3:78324424-78324425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371902422	chr3:78324449-78324450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143156125	chr3:78324497-78324498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548193154	chr3:78324520-78324521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182862412	chr3:78324542-78324543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540257071	chr3:78324575-78324576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188559594	chr3:78324584-78324585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568093349	chr3:78324592-78324593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201006425	chr3:78324609-78324610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145307744	chr3:78324634-78324635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78318800-78330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:78321600-78323800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:78322000-78323800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:78322400-78323600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:78322400-78323800	Enhancers	Primary hematopoietic stem cells	blood
6	chr3:78323400-78324600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:78323600-78326000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:78323800-78326000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:78323800-78326000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:78323800-78326400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:78324400-78328400	Enhancers	GM12878-XiMat	blood
12	chr3:78324600-78325000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:78325000-78326800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:78325000-78327000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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