Variant report

Variant	nsv517074
Chromosome Location	chr9:97463435-97464381
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	chr9:97444988..97448492-chr9:97460708..97463598,3	MCF-7	breast:
2	chr9:97461434..97463640-chr9:97466023..97468786,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12554486	chr9:97463435-97463436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528522752	chr9:97463451-97463452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546759290	chr9:97463505-97463506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568516879	chr9:97463606-97463607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535590687	chr9:97463625-97463626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185904160	chr9:97463652-97463653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569474422	chr9:97463656-97463657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540132009	chr9:97463732-97463733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558528123	chr9:97463757-97463758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7033300	chr9:97463781-97463782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544814932	chr9:97463782-97463783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10120534	chr9:97463801-97463802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs199783658	chr9:97463809-97463810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555090433	chr9:97463846-97463847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10121232	chr9:97463917-97463918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs200770994	chr9:97463931-97463932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71496979	chr9:97463932-97463933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71366257	chr9:97463933-97463934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77817705	chr9:97463960-97463961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62580291	chr9:97463962-97463963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190463714	chr9:97464019-97464020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562341260	chr9:97464058-97464059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577457455	chr9:97464059-97464060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541600948	chr9:97464069-97464070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113493735	chr9:97464088-97464089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142142783	chr9:97464146-97464147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10993315	chr9:97464152-97464153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13286749	chr9:97464164-97464165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530732905	chr9:97464212-97464213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560046156	chr9:97464215-97464216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7036063	chr9:97464268-97464269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs546940836	chr9:97464343-97464344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34584063	chr9:97464357-97464358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79554197	chr9:97464358-97464359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561944751	chr9:97464380-97464381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12349751	chr9:97464381-97464382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97457400-97465800	Weak transcription	Fetal Stomach	stomach
2	chr9:97460800-97465400	Weak transcription	Fetal Intestine Small	intestine
3	chr9:97461000-97465400	Weak transcription	Fetal Intestine Large	intestine
4	chr9:97461000-97465800	Weak transcription	Fetal Lung	lung
5	chr9:97461200-97465400	Weak transcription	HepG2	liver
6	chr9:97461200-97465800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:97461600-97463600	Enhancers	Placenta	Placenta
8	chr9:97463600-97467200	Weak transcription	Placenta	Placenta

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