Variant report

Variant	esv1838508
Chromosome Location	chr14:72807404-72810140
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	chr14:72806003..72809528-chr14:72813549..72815955,3	MCF-7	breast:

Extended variants
information (count: 129 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2681768	chr14:72807405-72807406	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545695052	chr14:72807427-72807428	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193171311	chr14:72807447-72807448	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34003450	chr14:72807485-72807486	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7155750	chr14:72807520-72807521	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577680045	chr14:72807533-72807534	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144543070	chr14:72807546-72807547	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2079506	chr14:72807559-72807560	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77887505	chr14:72807595-72807596	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146628650	chr14:72807612-72807613	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2681767	chr14:72807622-72807623	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs140137933	chr14:72807636-72807637	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2079505	chr14:72807663-72807664	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543343656	chr14:72807675-72807676	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2079504	chr14:72807682-72807683	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575911620	chr14:72807744-72807745	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8019358	chr14:72807815-72807816	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555133778	chr14:72807831-72807832	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541002164	chr14:72807834-72807835	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs8019371	chr14:72807845-72807846	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs8018393	chr14:72807860-72807861	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2079503	chr14:72807872-72807873	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532334397	chr14:72807894-72807895	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386778707	chr14:72807900-72807901	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368794256	chr14:72807901-72807902	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372907598	chr14:72807924-72807925	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530125368	chr14:72807925-72807926	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548015988	chr14:72807977-72807978	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560273518	chr14:72807980-72807981	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150294559	chr14:72808014-72808015	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527612096	chr14:72808031-72808032	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552413790	chr14:72808032-72808033	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570361757	chr14:72808067-72808068	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs8003559	chr14:72808083-72808084	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116665308	chr14:72808098-72808099	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs8022956	chr14:72808138-72808139	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112205188	chr14:72808146-72808147	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs8003591	chr14:72808157-72808158	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs566724989	chr14:72808172-72808173	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573354676	chr14:72808177-72808178	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534237517	chr14:72808214-72808215	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567590856	chr14:72808221-72808222	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559161114	chr14:72808264-72808265	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577120058	chr14:72808284-72808285	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs8022845	chr14:72808299-72808300	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs8022859	chr14:72808321-72808322	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182887124	chr14:72808325-72808326	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111844357	chr14:72808333-72808334	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71427156	chr14:72808356-72808357	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149059714	chr14:72808373-72808374	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72804400-72808000	Weak transcription	Spleen	Spleen
2	chr14:72807000-72809200	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:72807400-72808800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:72808000-72808400	Enhancers	Ovary	ovary
5	chr14:72808000-72809800	Enhancers	Spleen	Spleen
6	chr14:72808200-72809000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:72808800-72809000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:72809000-72809600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:72809200-72810200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr14:72809600-72810400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:72809800-72810400	Weak transcription	Spleen	Spleen

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