Variant report

Variant	nsv521497
Chromosome Location	chr9:118512043-118514444
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	chr9:118512692..118514781-chr9:118515369..118517078,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7855735	chr9:118512043-118512044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552555925	chr9:118512163-118512164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550097324	chr9:118512172-118512173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56129605	chr9:118512231-118512232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7856085	chr9:118512297-118512298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144620478	chr9:118512449-118512450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548784732	chr9:118512474-118512475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181591666	chr9:118512495-118512496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533866726	chr9:118512497-118512498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553729382	chr9:118512515-118512516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570310114	chr9:118512533-118512534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138327680	chr9:118512585-118512586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186313793	chr9:118512608-118512609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576267314	chr9:118512641-118512642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575832128	chr9:118512655-118512656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535302678	chr9:118512669-118512670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555136930	chr9:118512745-118512746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12553126	chr9:118512781-118512782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565510541	chr9:118512790-118512791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372439057	chr9:118512820-118512821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111329041	chr9:118512860-118512861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539162669	chr9:118512902-118512903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560546763	chr9:118513012-118513013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565197678	chr9:118513036-118513037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112113460	chr9:118513067-118513068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556235196	chr9:118513069-118513070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546155432	chr9:118513085-118513086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563072925	chr9:118513108-118513109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375434011	chr9:118513110-118513111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532033609	chr9:118513128-118513129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548844126	chr9:118513136-118513137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10982904	chr9:118513210-118513211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527388943	chr9:118513218-118513219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73656503	chr9:118513277-118513278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573312692	chr9:118513328-118513329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371835182	chr9:118513374-118513375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575497314	chr9:118513414-118513415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7036009	chr9:118513435-118513436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539727285	chr9:118513496-118513497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79709803	chr9:118513559-118513560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549736133	chr9:118513587-118513588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73656504	chr9:118513595-118513596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535362218	chr9:118513643-118513644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112751975	chr9:118513666-118513667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555149120	chr9:118513726-118513727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536632618	chr9:118513734-118513735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571871198	chr9:118513745-118513746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534045146	chr9:118513781-118513782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575573528	chr9:118513788-118513789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372387195	chr9:118513789-118513790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Neurodevelopmental disorder	0	CNVD
Intellectual disability	21811512	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118510400-118516400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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