Variant report

Variant	esv3385534
Chromosome Location	chr9:99862931-99865329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138409478	chr9:99862931-99862932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12164296	chr9:99862978-99862979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567796188	chr9:99862996-99862997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538315765	chr9:99863127-99863128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185532904	chr9:99863157-99863158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367617959	chr9:99863161-99863162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539039337	chr9:99863177-99863178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113217210	chr9:99863212-99863213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572298004	chr9:99863228-99863229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556182439	chr9:99863232-99863233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200983092	chr9:99863286-99863287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7867541	chr9:99863297-99863298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113990105	chr9:99863304-99863305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575851958	chr9:99863358-99863359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7867674	chr9:99863386-99863387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564645586	chr9:99863389-99863390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7870897	chr9:99863448-99863449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547365374	chr9:99863494-99863495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190296567	chr9:99863544-99863545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114826914	chr9:99863570-99863571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34905542	chr9:99863610-99863611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182942912	chr9:99863728-99863729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186020972	chr9:99863744-99863745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368689861	chr9:99863787-99863788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538452682	chr9:99863833-99863834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550252732	chr9:99863866-99863867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75264687	chr9:99863908-99863909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571767404	chr9:99863936-99863937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191731595	chr9:99863938-99863939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142983752	chr9:99863982-99863983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572378384	chr9:99864091-99864092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557385639	chr9:99864110-99864111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533684115	chr9:99864119-99864120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554581900	chr9:99864122-99864123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542881181	chr9:99864130-99864131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35677005	chr9:99864135-99864136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139739449	chr9:99864147-99864148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149382241	chr9:99864150-99864151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184023057	chr9:99864203-99864204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188965495	chr9:99864231-99864232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192534186	chr9:99864234-99864235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559278809	chr9:99864259-99864260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529673065	chr9:99864307-99864308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61660459	chr9:99864360-99864361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561572971	chr9:99864368-99864369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532092843	chr9:99864389-99864390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139881034	chr9:99864404-99864405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182233513	chr9:99864412-99864413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532618972	chr9:99864465-99864466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547599757	chr9:99864473-99864474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:99850600-99877000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:99856600-99871400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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