Variant report

Variant	nsv6478
Chromosome Location	chr9:10382390-10426916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 668 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:668 , 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	rs573793275	chr9:10384820-10384821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1407921	chr9:10384822-10384823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs374221893	chr9:10384827-10384828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559617102	chr9:10384839-10384840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138443209	chr9:10384888-10384889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550337176	chr9:10384927-10384928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551374874	chr9:10385052-10385053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377713734	chr9:10385053-10385054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7873950	chr9:10385072-10385073	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs531122474	chr9:10385121-10385122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114737249	chr9:10385142-10385143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567846727	chr9:10385147-10385148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536476748	chr9:10385167-10385168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117384205	chr9:10385170-10385171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371373604	chr9:10385178-10385179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10959086	chr9:10385183-10385184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1323483	chr9:10385200-10385201	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557791485	chr9:10385214-10385215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534290408	chr9:10385244-10385245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571589757	chr9:10385258-10385259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577969321	chr9:10385325-10385326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557336166	chr9:10385356-10385357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143992295	chr9:10385360-10385361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62540993	chr9:10385388-10385389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374201734	chr9:10385445-10385446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557019229	chr9:10385455-10385456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573755908	chr9:10385463-10385464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542488978	chr9:10385468-10385469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181699711	chr9:10385483-10385484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573019713	chr9:10385504-10385505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543392881	chr9:10385515-10385516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544963627	chr9:10385544-10385545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557117111	chr9:10385546-10385547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73404238	chr9:10385573-10385574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111236856	chr9:10385587-10385588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573785004	chr9:10385599-10385600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186839708	chr9:10385600-10385601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148642774	chr9:10385605-10385606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190841973	chr9:10385634-10385635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565733259	chr9:10385657-10385658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534716903	chr9:10385686-10385687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183391958	chr9:10385702-10385703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375595585	chr9:10385709-10385710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186647993	chr9:10385761-10385762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557203201	chr9:10385772-10385773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10738163	chr9:10385811-10385812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562008139	chr9:10385817-10385818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536415277	chr9:10385825-10385826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71485331	chr9:10385842-10385843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71332739	chr9:10385848-10385849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10384800-10385200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr9:10385000-10385200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr9:10385200-10387200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:10387200-10387600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr9:10387200-10387600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:10387200-10387800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:10387200-10387800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr9:10387400-10387800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:10387800-10395800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:10395800-10396000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:10395800-10396200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr9:10396000-10397200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:10396600-10397000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:10397200-10397400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:10397200-10398000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr9:10398800-10399200	Enhancers	Fetal Heart	heart

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