Variant report

Variant	nsv977605
Chromosome Location	chr14:66554191-66556768
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	chr14:66554115..66555793-chr14:66584396..66586785,2	MCF-7	breast:

Extended variants
information (count: 110 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577937144	chr14:66554237-66554238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540450979	chr14:66554245-66554246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143418409	chr14:66554268-66554269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573723291	chr14:66554275-66554276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56396485	chr14:66554284-66554285	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562147977	chr14:66554299-66554300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531070198	chr14:66554323-66554324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183033295	chr14:66554329-66554330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564466580	chr14:66554363-66554364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533346500	chr14:66554368-66554369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527257890	chr14:66554390-66554391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187996075	chr14:66554393-66554394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566849447	chr14:66554400-66554401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535946220	chr14:66554405-66554406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142146310	chr14:66554466-66554467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569286886	chr14:66554493-66554494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192830827	chr14:66554508-66554509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146355459	chr14:66554520-66554521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533741032	chr14:66554581-66554582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553979875	chr14:66554608-66554609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117782103	chr14:66554688-66554689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564122025	chr14:66554695-66554696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184405523	chr14:66554705-66554706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562110723	chr14:66554709-66554710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575609324	chr14:66554726-66554727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112082569	chr14:66554787-66554788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544637232	chr14:66554790-66554791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556468996	chr14:66554795-66554796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564429855	chr14:66554849-66554850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533727306	chr14:66554853-66554854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546828931	chr14:66554880-66554881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139632902	chr14:66554883-66554884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529332773	chr14:66554944-66554945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549519020	chr14:66554973-66554974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569404753	chr14:66555034-66555035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531723732	chr14:66555036-66555037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141908585	chr14:66555040-66555041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571450425	chr14:66555073-66555074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534097537	chr14:66555096-66555097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553646382	chr14:66555107-66555108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531265405	chr14:66555126-66555127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201275971	chr14:66555127-66555128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189343659	chr14:66555138-66555139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567906917	chr14:66555172-66555173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535916741	chr14:66555212-66555213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555823692	chr14:66555226-66555227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80170497	chr14:66555257-66555258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77506599	chr14:66555271-66555272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558526561	chr14:66555290-66555291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376093545	chr14:66555296-66555297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	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
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	17440070	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66547600-66560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:66553400-66556000	Enhancers	NHDF-Ad	bronchial
3	chr14:66553400-66556200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:66553600-66554800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:66553600-66556000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:66553600-66556400	Enhancers	HSMMtube	muscle
7	chr14:66553600-66557600	Enhancers	Fetal Stomach	stomach
8	chr14:66553800-66554400	Enhancers	NH-A	brain
9	chr14:66553800-66554600	Enhancers	HSMM	muscle
10	chr14:66554600-66555200	Weak transcription	HSMM	muscle
11	chr14:66555200-66555400	Enhancers	HSMM	muscle
12	chr14:66555200-66555800	Enhancers	Muscle Satellite Cultured Cells	--

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