Variant report

Variant	nsv969693
Chromosome Location	chr9:97248147-97250110
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	chr9:97245654..97249341-chr9:97260999..97264040,3	MCF-7	breast:
2	chr9:97240021..97241980-chr9:97249433..97252135,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIATL1-1	chr9:97250008-97250077	ENSG00000235311
2	lnc-FBP2-3	chr9:97247734-97248160	NONHSAT133317
3	lnc-FBP2-3	chr9:97249934-97250102	NONHSAT133317

Extended variants
information (count: 99 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557862058	chr9:97248153-97248154	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs9409564	chr9:97248166-97248167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs565325560	chr9:97248174-97248175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539203779	chr9:97248201-97248202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143747159	chr9:97248203-97248204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555398401	chr9:97248226-97248227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573633595	chr9:97248234-97248235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369189897	chr9:97248235-97248236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9409782	chr9:97248236-97248237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73529966	chr9:97248273-97248274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185565393	chr9:97248306-97248307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190042762	chr9:97248321-97248322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545251759	chr9:97248329-97248330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560249652	chr9:97248330-97248331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141044031	chr9:97248355-97248356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569782851	chr9:97248400-97248401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61670189	chr9:97248417-97248418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567328999	chr9:97248464-97248465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144791967	chr9:97248497-97248498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550870869	chr9:97248502-97248503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201419848	chr9:97248546-97248547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569034179	chr9:97248557-97248558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539652404	chr9:97248569-97248570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374161111	chr9:97248600-97248601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551591448	chr9:97248690-97248691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566617419	chr9:97248698-97248699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113608705	chr9:97248725-97248726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114215606	chr9:97248739-97248740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544110453	chr9:97248768-97248769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555461767	chr9:97248777-97248778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181630423	chr9:97248778-97248779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555239995	chr9:97248784-97248785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537416645	chr9:97248840-97248841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556846273	chr9:97248849-97248850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578177388	chr9:97248893-97248894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148903708	chr9:97248916-97248917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560313982	chr9:97248917-97248918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572261877	chr9:97248920-97248921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371615495	chr9:97248921-97248922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199536417	chr9:97249017-97249018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199911902	chr9:97249029-97249030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10125631	chr9:97249031-97249032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs561017476	chr9:97249038-97249039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77737918	chr9:97249040-97249041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531758690	chr9:97249053-97249054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9409783	chr9:97249073-97249074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562840478	chr9:97249116-97249117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533072692	chr9:97249120-97249121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551655118	chr9:97249122-97249123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7047279	chr9:97249230-97249231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:80)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97241800-97262800	Weak transcription	Liver	Liver

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