Variant report

Variant	nsv964966
Chromosome Location	chr5:154490951-154491821
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	chr5:154479393..154481556-chr5:154490178..154491823,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77571808	chr5:154490956-154490957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114902475	chr5:154490958-154490959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74826883	chr5:154490969-154490970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368515964	chr5:154490981-154490982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4958779	chr5:154491012-154491013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs541893325	chr5:154491033-154491034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145512974	chr5:154491041-154491042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527997495	chr5:154491052-154491053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547935590	chr5:154491055-154491056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184080950	chr5:154491070-154491071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146789469	chr5:154491082-154491083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140498606	chr5:154491083-154491084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17116912	chr5:154491144-154491145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531489050	chr5:154491150-154491151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4958780	chr5:154491193-154491194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs545170632	chr5:154491216-154491217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142393006	chr5:154491217-154491218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34140971	chr5:154491232-154491233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78273712	chr5:154491233-154491234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62380596	chr5:154491235-154491236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564911016	chr5:154491244-154491245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568313090	chr5:154491245-154491246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35112957	chr5:154491261-154491262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10076907	chr5:154491269-154491270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138197957	chr5:154491276-154491277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530383969	chr5:154491277-154491278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577109648	chr5:154491283-154491284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12517423	chr5:154491313-154491314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556679329	chr5:154491317-154491318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576637978	chr5:154491332-154491333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76615093	chr5:154491361-154491362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547048392	chr5:154491362-154491363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565426165	chr5:154491368-154491369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539195817	chr5:154491413-154491414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148343413	chr5:154491425-154491426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541362445	chr5:154491448-154491449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564485320	chr5:154491455-154491456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533337426	chr5:154491491-154491492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543640133	chr5:154491499-154491500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187854468	chr5:154491507-154491508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531325306	chr5:154491513-154491514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548129895	chr5:154491529-154491530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567968001	chr5:154491535-154491536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79572272	chr5:154491541-154491542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143318795	chr5:154491542-154491543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570794312	chr5:154491543-154491544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191445235	chr5:154491557-154491558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183687905	chr5:154491578-154491579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187234944	chr5:154491579-154491580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535586517	chr5:154491609-154491610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Epilepsy	20502679	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154490600-154494200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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