Variant report

Variant	esv17944
Chromosome Location	chr9:136876972-136879859
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 270 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35695866	chr9:136876984-136876985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539965807	chr9:136876992-136876993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144330212	chr9:136877002-136877003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531788159	chr9:136877007-136877008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548406720	chr9:136877009-136877010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576630824	chr9:136877011-136877012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544059661	chr9:136877016-136877017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113606931	chr9:136877018-136877019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529973010	chr9:136877021-136877022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527705886	chr9:136877024-136877025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71505247	chr9:136877026-136877027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561142601	chr9:136877028-136877029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528557653	chr9:136877035-136877036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71505248	chr9:136877042-136877043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571832788	chr9:136877050-136877051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539227765	chr9:136877051-136877052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147789038	chr9:136877052-136877053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569548585	chr9:136877058-136877059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536576510	chr9:136877064-136877065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550300633	chr9:136877066-136877067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3004621	chr9:136877069-136877070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554513401	chr9:136877070-136877071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113180078	chr9:136877084-136877085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377399018	chr9:136877093-136877094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533836287	chr9:136877094-136877095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370336646	chr9:136877108-136877109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34008664	chr9:136877117-136877118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534641859	chr9:136877118-136877119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377030055	chr9:136877141-136877142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74926521	chr9:136877162-136877163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71503375	chr9:136877165-136877166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112933549	chr9:136877186-136877187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75536916	chr9:136877189-136877190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111916060	chr9:136877210-136877211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367947057	chr9:136877213-136877214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71505250	chr9:136877214-136877215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113857262	chr9:136877234-136877235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80118615	chr9:136877237-136877238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71505251	chr9:136877258-136877259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77044777	chr9:136877261-136877262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71505252	chr9:136877262-136877263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371547443	chr9:136877282-136877283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78939659	chr9:136877285-136877286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74186070	chr9:136877297-136877298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74184841	chr9:136877300-136877301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112104285	chr9:136877306-136877307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74199892	chr9:136877309-136877310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74195128	chr9:136877310-136877311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558076558	chr9:136877321-136877322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74203110	chr9:136877324-136877325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136871800-136877000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:136876200-136889800	Weak transcription	Right Atrium	heart
3	chr9:136879800-136880000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr9:136879800-136880200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links