Variant report

Variant	nsv518679
Chromosome Location	chr9:9119327-9125205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 211 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550500669	chr9:9120209-9120210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572731382	chr9:9120223-9120224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550208519	chr9:9120248-9120249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568706340	chr9:9120254-9120255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535888594	chr9:9120265-9120266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147732706	chr9:9120282-9120283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183960697	chr9:9120327-9120328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371968664	chr9:9120347-9120348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546156868	chr9:9120365-9120366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558243712	chr9:9120451-9120452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189989972	chr9:9120458-9120459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543575848	chr9:9120482-9120483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555390718	chr9:9120501-9120502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192862136	chr9:9120505-9120506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540651975	chr9:9120533-9120534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558920102	chr9:9120553-9120554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532901804	chr9:9120564-9120565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185376264	chr9:9120589-9120590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563347241	chr9:9120602-9120603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576321666	chr9:9120603-9120604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531831764	chr9:9120625-9120626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550335303	chr9:9120626-9120627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562274411	chr9:9120660-9120661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529612104	chr9:9120676-9120677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149217102	chr9:9120709-9120710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566089244	chr9:9120714-9120715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77441735	chr9:9120719-9120720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551606310	chr9:9120741-9120742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190248765	chr9:9120756-9120757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536881710	chr9:9120821-9120822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555515694	chr9:9120829-9120830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573898467	chr9:9120843-9120844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35626722	chr9:9120849-9120850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534595749	chr9:9120853-9120854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552805689	chr9:9120866-9120867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143415496	chr9:9120945-9120946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544573878	chr9:9120955-9120956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148347507	chr9:9121017-9121018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182431255	chr9:9121044-9121045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186587487	chr9:9121045-9121046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76377517	chr9:9121078-9121079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559236694	chr9:9121143-9121144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528324522	chr9:9121149-9121150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560061856	chr9:9121159-9121160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533381275	chr9:9121182-9121183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141538814	chr9:9121201-9121202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570079050	chr9:9121204-9121205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75050570	chr9:9121265-9121266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9886879	chr9:9121312-9121313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188248074	chr9:9121325-9121326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
abnormal development	18461090	CNVD
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9120200-9120400	Enhancers	Fetal Brain Female	brain
2	chr9:9120400-9120600	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr9:9120400-9122600	Weak transcription	Fetal Brain Female	brain
4	chr9:9122000-9123200	Enhancers	Fetal Brain Male	brain
5	chr9:9122600-9123000	Enhancers	Fetal Brain Female	brain
6	chr9:9123200-9127000	Weak transcription	Pancreas	Pancrea
7	chr9:9123200-9127400	Weak transcription	Fetal Brain Male	brain
8	chr9:9124400-9125000	Enhancers	Fetal Kidney	kidney
9	chr9:9125000-9125400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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