Variant report

Variant	esv3468575
Chromosome Location	chr5:147551059-147556157
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	chr5:147550380..147552997-chr5:147734674..147737432,2	MCF-7	breast:
2	chr5:147526975..147528774-chr5:147550903..147554676,3	MCF-7	breast:

Extended variants
information (count: 141 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577956036	chr5:147551648-147551649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539509419	chr5:147551661-147551662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192761830	chr5:147551669-147551670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375225299	chr5:147551679-147551680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576203758	chr5:147551684-147551685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551574181	chr5:147551702-147551703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150253966	chr5:147551739-147551740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533886830	chr5:147551790-147551791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76001565	chr5:147551809-147551810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530653437	chr5:147551811-147551812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138879514	chr5:147551867-147551868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553665365	chr5:147551889-147551890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370620148	chr5:147551950-147551951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76640786	chr5:147552027-147552028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541509825	chr5:147552119-147552120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560049737	chr5:147552175-147552176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542440620	chr5:147552231-147552232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148960414	chr5:147552261-147552262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552271116	chr5:147552274-147552275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564145994	chr5:147552284-147552285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531568563	chr5:147552285-147552286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77271994	chr5:147552342-147552343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568309700	chr5:147552353-147552354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535693084	chr5:147552360-147552361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10678629	chr5:147552361-147552362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370896823	chr5:147552362-147552363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3036798	chr5:147552364-147552365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397778850	chr5:147552365-147552366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547482324	chr5:147552423-147552424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143692040	chr5:147552472-147552473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539567566	chr5:147552516-147552517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184413839	chr5:147552533-147552534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377116296	chr5:147552546-147552547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189040541	chr5:147552571-147552572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180922083	chr5:147552700-147552701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555927533	chr5:147552734-147552735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369783568	chr5:147552811-147552812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576125400	chr5:147552871-147552872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138224750	chr5:147552935-147552936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142717277	chr5:147552972-147552973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559913292	chr5:147552982-147552983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184524559	chr5:147553001-147553002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545797495	chr5:147553021-147553022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372835226	chr5:147553039-147553040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200056603	chr5:147553040-147553041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201030229	chr5:147553041-147553042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201995239	chr5:147553042-147553043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200417587	chr5:147553043-147553044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146059253	chr5:147553389-147553390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561878946	chr5:147553515-147553516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147551600-147552200	Enhancers	Stomach Mucosa	stomach
2	chr5:147552200-147559800	Weak transcription	Stomach Mucosa	stomach
3	chr5:147555800-147556600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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