Variant report

Variant	esv2572120
Chromosome Location	chr9:97291950-97293535
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	chr9:97291272..97293465-chr9:97298151..97299892,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13291171	chr9:97291955-97291956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539605816	chr9:97291965-97291966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71498663	chr9:97291978-97291979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13295718	chr9:97292012-97292013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199541403	chr9:97292019-97292020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2772016	chr9:97292022-97292023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10821356	chr9:97292026-97292027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199762841	chr9:97292036-97292037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71494031	chr9:97292042-97292043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2790403	chr9:97292064-97292065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369473970	chr9:97292071-97292072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1818664	chr9:97292134-97292135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555676257	chr9:97292147-97292148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573270670	chr9:97292151-97292152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113164840	chr9:97292161-97292162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2790401	chr9:97292201-97292202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71498665	chr9:97292226-97292227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2790400	chr9:97292230-97292231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12684056	chr9:97292242-97292243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544822589	chr9:97292250-97292251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560285734	chr9:97292253-97292254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181582754	chr9:97292282-97292283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377207468	chr9:97292287-97292288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111438686	chr9:97292320-97292321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185869245	chr9:97292329-97292330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533270940	chr9:97292331-97292332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571288098	chr9:97292335-97292336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529270978	chr9:97292336-97292337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9409801	chr9:97292402-97292403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs569208498	chr9:97292418-97292419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190194972	chr9:97292511-97292512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142848946	chr9:97292570-97292571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2987890	chr9:97292571-97292572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143773995	chr9:97292574-97292575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201596774	chr9:97292577-97292578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111318487	chr9:97292639-97292640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2679611	chr9:97292691-97292692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs186181023	chr9:97292700-97292701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568980185	chr9:97292729-97292730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115389700	chr9:97292734-97292735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116085324	chr9:97292750-97292751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139022892	chr9:97292762-97292763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112766942	chr9:97292785-97292786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577606351	chr9:97292790-97292791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545070484	chr9:97292791-97292792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560016722	chr9:97292900-97292901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9409582	chr9:97292901-97292902	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs200212848	chr9:97292924-97292925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111582391	chr9:97292950-97292951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112400285	chr9:97293125-97293126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97278000-97295200	Weak transcription	Liver	Liver

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