Variant report

Variant	nsv8418
Chromosome Location	chr9:12471413-12490843
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	chr8:43095234..43095797-chr9:12480274..12480774,2	MCF-7	breast:

Extended variants
information (count: 122 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151175777	chr9:12474017-12474018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139178870	chr9:12474043-12474044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534707893	chr9:12474083-12474084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537574978	chr9:12474106-12474107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558261948	chr9:12474119-12474120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201988166	chr9:12474123-12474124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577700870	chr9:12474126-12474127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376231298	chr9:12474128-12474129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371400591	chr9:12474166-12474167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374709727	chr9:12474187-12474188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573865351	chr9:12474215-12474216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144008144	chr9:12474222-12474223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543264461	chr9:12474224-12474225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370629391	chr9:12474229-12474230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551543977	chr9:12474232-12474233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117317685	chr9:12474254-12474255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12344591	chr9:12474291-12474292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200446057	chr9:12474314-12474315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551067572	chr9:12474318-12474319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374269397	chr9:12474323-12474324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146420921	chr9:12474329-12474330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569683847	chr9:12474339-12474340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550815499	chr9:12474346-12474347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567420406	chr9:12474353-12474354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536051185	chr9:12474366-12474367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545367228	chr9:12474377-12474378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546922437	chr9:12474400-12474401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566635019	chr9:12474450-12474451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558715312	chr9:12474483-12474484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535052400	chr9:12474501-12474502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369892019	chr9:12474517-12474518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140750356	chr9:12474547-12474548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537102178	chr9:12474553-12474554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557140407	chr9:12474581-12474582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573935291	chr9:12474583-12474584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542849161	chr9:12474621-12474622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202036662	chr9:12474636-12474637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200223112	chr9:12474649-12474650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560021458	chr9:12474651-12474652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115639533	chr9:12474741-12474742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62542325	chr9:12474748-12474749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564845004	chr9:12474749-12474750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530622520	chr9:12474760-12474761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548775684	chr9:12474788-12474789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544691469	chr9:12474790-12474791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563697485	chr9:12483211-12483212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1576659	chr9:12483221-12483222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182100110	chr9:12483255-12483256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569635995	chr9:12483262-12483263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535656150	chr9:12483263-12483264	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12474000-12474800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:12483200-12484200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:12490600-12491200	Enhancers	Fetal Heart	heart

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