Variant report

Variant	esv13850
Chromosome Location	chr5:147553094-147555199
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	chr5:147526975..147528774-chr5:147550903..147554676,3	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146059253	chr5:147553389-147553390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561878946	chr5:147553515-147553516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529191148	chr5:147553549-147553550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547641962	chr5:147553557-147553558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565617264	chr5:147553671-147553672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539483008	chr5:147553690-147553691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551354824	chr5:147553752-147553753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79779038	chr5:147553829-147553830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145812174	chr5:147553836-147553837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189357431	chr5:147553843-147553844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555694393	chr5:147553844-147553845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377765720	chr5:147553880-147553881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181513605	chr5:147553996-147553997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534882931	chr5:147554022-147554023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553734075	chr5:147554085-147554086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578247022	chr5:147554091-147554092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544772126	chr5:147554129-147554130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557738668	chr5:147554130-147554131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576213470	chr5:147554138-147554139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370183637	chr5:147554161-147554162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543469777	chr5:147554209-147554210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200856742	chr5:147554238-147554239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201669554	chr5:147554239-147554240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397763876	chr5:147554245-147554246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186955042	chr5:147554329-147554330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540853916	chr5:147554334-147554335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373170363	chr5:147554448-147554449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138165274	chr5:147554468-147554469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61575505	chr5:147554472-147554473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116605811	chr5:147554481-147554482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9325082	chr5:147554607-147554608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9325083	chr5:147554609-147554610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547384391	chr5:147554683-147554684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191328217	chr5:147554739-147554740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374191149	chr5:147554808-147554809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150570466	chr5:147554830-147554831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139555575	chr5:147554854-147554855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369340612	chr5:147554858-147554859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539298476	chr5:147554877-147554878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557801882	chr5:147554888-147554889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10052031	chr5:147554889-147554890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs543030774	chr5:147554891-147554892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555474604	chr5:147554895-147554896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573644655	chr5:147554925-147554926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148548116	chr5:147554937-147554938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541270858	chr5:147554986-147554987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147123556	chr5:147554998-147554999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386693393	chr5:147554999-147555000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10074328	chr5:147555029-147555030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs533069442	chr5:147555030-147555031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147552200-147559800	Weak transcription	Stomach Mucosa	stomach

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