Variant report

Variant	nsv524993
Chromosome Location	chr9:9327159-9330772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 212 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs2184082	chr9:9327159-9327160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149504445	chr9:9327221-9327222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369063397	chr9:9327225-9327226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543361800	chr9:9327264-9327265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144075226	chr9:9327275-9327276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182642635	chr9:9327278-9327279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34649992	chr9:9327297-9327298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2039417	chr9:9327309-9327310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75909672	chr9:9327326-9327327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114439235	chr9:9327336-9327337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575856402	chr9:9327367-9327368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185720253	chr9:9327401-9327402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536607678	chr9:9327410-9327411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373893778	chr9:9327452-9327453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190578533	chr9:9327487-9327488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78633813	chr9:9327490-9327491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565063987	chr9:9327499-9327500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370831641	chr9:9327511-9327512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2039416	chr9:9327530-9327531	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375760869	chr9:9327554-9327555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183863880	chr9:9327561-9327562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188808820	chr9:9327576-9327577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76325158	chr9:9327585-9327586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144294971	chr9:9327614-9327615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193292778	chr9:9327629-9327630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115239117	chr9:9327648-9327649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182557991	chr9:9327658-9327659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4143735	chr9:9327668-9327669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532750407	chr9:9327687-9327688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551204113	chr9:9327694-9327695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569337775	chr9:9327700-9327701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146047859	chr9:9327725-9327726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554793950	chr9:9327737-9327738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373699776	chr9:9327748-9327749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140019409	chr9:9327786-9327787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115969608	chr9:9327787-9327788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576726523	chr9:9327807-9327808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142297453	chr9:9327813-9327814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555956900	chr9:9327817-9327818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533849022	chr9:9327819-9327820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574170106	chr9:9327839-9327840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532645882	chr9:9327844-9327845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541504687	chr9:9327864-9327865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35650113	chr9:9327905-9327906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57099554	chr9:9327920-9327921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186902742	chr9:9327935-9327936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527269779	chr9:9327984-9327985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113655370	chr9:9327985-9327986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140634870	chr9:9328006-9328007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573193202	chr9:9328015-9328016	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
Acute myeloid leukemia	21251322	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9326000-9327600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:9326600-9327200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:9327000-9327200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:9327200-9331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:9327200-9331600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:9327600-9329800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:9329600-9330400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr9:9329600-9331800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr9:9329800-9330000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr9:9329800-9330200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:9329800-9330200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr9:9329800-9330600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:9329800-9333400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:9330000-9330200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:9330200-9331000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:9330200-9332200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr9:9330200-9335800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:9330400-9330800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:9330600-9331000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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