Variant report

Variant	nsv1029366
Chromosome Location	chr9:11422823-11453079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 661 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:661 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9407479	chr9:11422823-11422824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571626732	chr9:11422828-11422829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146709852	chr9:11422846-11422847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537700622	chr9:11422903-11422904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9407480	chr9:11422969-11422970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139136342	chr9:11422996-11422997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372972971	chr9:11423001-11423002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372034046	chr9:11423013-11423014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140263378	chr9:11423042-11423043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536377739	chr9:11423056-11423057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532736101	chr9:11423086-11423087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538633155	chr9:11423099-11423100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145253187	chr9:11423121-11423122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573341688	chr9:11423142-11423143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147971783	chr9:11423187-11423188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557938893	chr9:11423188-11423189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202106580	chr9:11423211-11423212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578005998	chr9:11423222-11423223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140894282	chr9:11423277-11423278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563182508	chr9:11423283-11423284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573559932	chr9:11423330-11423331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542390775	chr9:11423333-11423334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559036093	chr9:11423346-11423347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199642422	chr9:11423348-11423349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190022620	chr9:11423363-11423364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs16927498	chr9:11423431-11423432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192675339	chr9:11423456-11423457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs987846	chr9:11423465-11423466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1335465	chr9:11423473-11423474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567590111	chr9:11423474-11423475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1335464	chr9:11423524-11423525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs546989317	chr9:11423641-11423642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185318220	chr9:11423652-11423653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539095322	chr9:11423663-11423664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200655352	chr9:11423664-11423665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116271640	chr9:11423676-11423677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571416823	chr9:11423682-11423683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188751004	chr9:11423689-11423690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150173985	chr9:11423709-11423710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575880119	chr9:11423714-11423715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369620632	chr9:11423739-11423740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543275481	chr9:11423743-11423744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181950966	chr9:11423753-11423754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551860674	chr9:11423762-11423763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552503215	chr9:11423763-11423764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138634963	chr9:11423770-11423771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76286380	chr9:11423785-11423786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2152267	chr9:11423810-11423811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs72698171	chr9:11423824-11423825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7864970	chr9:11423835-11423836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11417800-11425800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:11425800-11426000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:11426200-11426600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:11426600-11431800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:11427600-11428800	Enhancers	Fetal Heart	heart
6	chr9:11428800-11429200	Weak transcription	Fetal Heart	heart
7	chr9:11429200-11429400	Enhancers	Fetal Heart	heart
8	chr9:11429400-11432400	Weak transcription	Fetal Heart	heart
9	chr9:11431400-11431800	Enhancers	Fetal Brain Male	brain
10	chr9:11431600-11431800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:11431800-11432400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:11432200-11432600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:11432400-11434200	Enhancers	Fetal Heart	heart
14	chr9:11433400-11433800	Active TSS	Right Atrium	heart
15	chr9:11434200-11434600	Weak transcription	Fetal Heart	heart
16	chr9:11434600-11435600	Enhancers	Fetal Heart	heart
17	chr9:11447600-11448400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:11451600-11451800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:11452000-11452400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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