Variant report

Variant	nsv525037
Chromosome Location	chr9:118078006-118081458
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	chr9:118072207..118074478-chr9:118077009..118079074,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527776156	chr9:118079037-118079038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147129022	chr9:118079059-118079060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs58010560	chr9:118079070-118079071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533181085	chr9:118079085-118079086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550412996	chr9:118079088-118079089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140296347	chr9:118079092-118079093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188195422	chr9:118079109-118079110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536171523	chr9:118079113-118079114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375370813	chr9:118079128-118079129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555522937	chr9:118079131-118079132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182026354	chr9:118079133-118079134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368000672	chr9:118079151-118079152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142084852	chr9:118079199-118079200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115294899	chr9:118079251-118079252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577527142	chr9:118079391-118079392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558794140	chr9:118079460-118079461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543067649	chr9:118079481-118079482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557194735	chr9:118079503-118079504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112239338	chr9:118079520-118079521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542942639	chr9:118079534-118079535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570613533	chr9:118079573-118079574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78733841	chr9:118079581-118079582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537959616	chr9:118079590-118079591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35331883	chr9:118079611-118079612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528298693	chr9:118079615-118079616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371498571	chr9:118079761-118079762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116753439	chr9:118079770-118079771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs964631	chr9:118079772-118079773	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs75888377	chr9:118079789-118079790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541835201	chr9:118079823-118079824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187265456	chr9:118079888-118079889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552336111	chr9:118079900-118079901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73656745	chr9:118079908-118079909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369444196	chr9:118079911-118079912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549316182	chr9:118079925-118079926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386737912	chr9:118079943-118079944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114468921	chr9:118079944-118079945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368853620	chr9:118080038-118080039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111564195	chr9:118080070-118080071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537178789	chr9:118080086-118080087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141116290	chr9:118080107-118080108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573627256	chr9:118080108-118080109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149818851	chr9:118080129-118080130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553312204	chr9:118080148-118080149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573493264	chr9:118080222-118080223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73563101	chr9:118080225-118080226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371838675	chr9:118080231-118080232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375803007	chr9:118080277-118080278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181635220	chr9:118080301-118080302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559250782	chr9:118080360-118080361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118079000-118080000	Enhancers	Osteobl	bone
2	chr9:118079800-118081400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:118081400-118081600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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