Variant report

Variant	nsv892330
Chromosome Location	chr9:10714842-10767678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 230 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:230 , 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	rs185878176	chr9:10729219-10729220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188425415	chr9:10729282-10729283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138614059	chr9:10729330-10729331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572397051	chr9:10729331-10729332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557388652	chr9:10729365-10729366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561804910	chr9:10729368-10729369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117632815	chr9:10729370-10729371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10809173	chr9:10729449-10729450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149297997	chr9:10729487-10729488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532777671	chr9:10729503-10729504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550078746	chr9:10729504-10729505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569851816	chr9:10729505-10729506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7856719	chr9:10729527-10729528	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548728448	chr9:10729548-10729549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181253879	chr9:10729560-10729561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554780900	chr9:10729563-10729564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185510236	chr9:10729623-10729624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557747110	chr9:10729633-10729634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190275911	chr9:10729638-10729639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112154164	chr9:10729659-10729660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183290890	chr9:10729664-10729665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7870920	chr9:10729710-10729711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs543250960	chr9:10729725-10729726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187043223	chr9:10729728-10729729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79890851	chr9:10729764-10729765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543548191	chr9:10729765-10729766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541092014	chr9:10729786-10729787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564005686	chr9:10729799-10729800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566317530	chr9:10749003-10749004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114249831	chr9:10749018-10749019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547514696	chr9:10749021-10749022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570497272	chr9:10749029-10749030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77272809	chr9:10749036-10749037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556161014	chr9:10749070-10749071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187991665	chr9:10749077-10749078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535408927	chr9:10749082-10749083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369931482	chr9:10749189-10749190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192669733	chr9:10749198-10749199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs59340678	chr9:10749236-10749237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs148055820	chr9:10749241-10749242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141808330	chr9:10749252-10749253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78853925	chr9:10749278-10749279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs578020402	chr9:10749281-10749282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10809183	chr9:10749312-10749313	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534961151	chr9:10749314-10749315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563471010	chr9:10749320-10749321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529262959	chr9:10749345-10749346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184146417	chr9:10749380-10749381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373918476	chr9:10749397-10749398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115947104	chr9:10749427-10749428	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10729200-10729600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr9:10729400-10729800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr9:10749000-10749600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:10761800-10762400	Enhancers	Fetal Brain Male	brain
5	chr9:10762200-10764800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:10762400-10764200	Weak transcription	Fetal Brain Male	brain
7	chr9:10762600-10763000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:10764200-10765200	Enhancers	Fetal Brain Male	brain

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