Variant report

Variant	esv3391603
Chromosome Location	chr5:152076209-152078657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 196 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563886753	chr5:152076242-152076243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577360209	chr5:152076273-152076274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375450400	chr5:152076281-152076282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566220226	chr5:152076287-152076288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144969432	chr5:152076300-152076301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527597241	chr5:152076343-152076344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80068322	chr5:152076360-152076361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79652557	chr5:152076362-152076363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76251098	chr5:152076363-152076364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138411671	chr5:152076396-152076397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369867690	chr5:152076403-152076404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573099099	chr5:152076452-152076453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200313598	chr5:152076463-152076464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530547504	chr5:152076491-152076492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368534367	chr5:152076496-152076497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528246718	chr5:152076502-152076503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184172064	chr5:152076514-152076515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530350591	chr5:152076539-152076540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542618618	chr5:152076551-152076552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187558690	chr5:152076587-152076588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13185125	chr5:152076618-152076619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111217283	chr5:152076622-152076623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192722882	chr5:152076624-152076625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554622428	chr5:152076632-152076633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572833031	chr5:152076669-152076670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183807165	chr5:152076676-152076677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539932602	chr5:152076685-152076686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187082994	chr5:152076706-152076707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191939430	chr5:152076712-152076713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13185282	chr5:152076715-152076716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184276467	chr5:152076726-152076727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111217473	chr5:152076729-152076730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190347387	chr5:152076753-152076754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193092711	chr5:152076755-152076756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12152890	chr5:152076762-152076763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12153740	chr5:152076764-152076765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180898148	chr5:152076774-152076775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565038417	chr5:152076800-152076801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375886006	chr5:152076808-152076809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12153451	chr5:152076809-152076810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373613800	chr5:152076810-152076811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376514158	chr5:152076811-152076812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369993674	chr5:152076813-152076814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369783240	chr5:152076816-152076817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373350140	chr5:152076817-152076818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376176911	chr5:152076823-152076824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375737056	chr5:152076830-152076831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370557426	chr5:152076840-152076841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370258026	chr5:152076845-152076846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532198796	chr5:152076848-152076849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Chronic lymphocytic leukemia	21546498	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
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152071400-152083600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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