Variant report

Variant	nsv613423
Chromosome Location	chr9:11374073-11408865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 241 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:241 , 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	rs16927457	chr9:11374073-11374074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146081884	chr9:11374095-11374096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547226461	chr9:11374104-11374105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369534819	chr9:11374109-11374110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10756241	chr9:11374122-11374123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs377682073	chr9:11374126-11374127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114450353	chr9:11374150-11374151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559019563	chr9:11374172-11374173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575882257	chr9:11374233-11374234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187873360	chr9:11374263-11374264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534841208	chr9:11374282-11374283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574601198	chr9:11374283-11374284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376092085	chr9:11374304-11374305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552769213	chr9:11374312-11374313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572983578	chr9:11374359-11374360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142818135	chr9:11374362-11374363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191164606	chr9:11374371-11374372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182579904	chr9:11374372-11374373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558006317	chr9:11374486-11374487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577878162	chr9:11374489-11374490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563113497	chr9:11374499-11374500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5896449	chr9:11374508-11374509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566350034	chr9:11374509-11374510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80154132	chr9:11374511-11374512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398010310	chr9:11374525-11374526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191578609	chr9:11374553-11374554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531948567	chr9:11374558-11374559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566543820	chr9:11374567-11374568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551956224	chr9:11374582-11374583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565460601	chr9:11374597-11374598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569454039	chr9:11374610-11374611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538107730	chr9:11374616-11374617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554558133	chr9:11374679-11374680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568083976	chr9:11374703-11374704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141536590	chr9:11374791-11374792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528938258	chr9:11374795-11374796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147404377	chr9:11374805-11374806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138848830	chr9:11374837-11374838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577259008	chr9:11374863-11374864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547054657	chr9:11374880-11374881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149366505	chr9:11374895-11374896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148869620	chr9:11374911-11374912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575460779	chr9:11374912-11374913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77033511	chr9:11374926-11374927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532216638	chr9:11374929-11374930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185464079	chr9:11374938-11374939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16927459	chr9:11374956-11374957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529747489	chr9:11374979-11374980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78709159	chr9:11374988-11374989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2152269	chr9:11375023-11375024	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

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	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11372800-11377200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:11374800-11375400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr9:11374800-11375600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:11374800-11375600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:11375000-11375400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr9:11375000-11375400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:11375000-11375600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr9:11377200-11377600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:11390400-11390800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr9:11401200-11401600	Active TSS	Fetal Brain Male	brain
11	chr9:11402400-11402800	Active TSS	Fetal Heart	heart

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