Variant report

Variant	nsv438088
Chromosome Location	chr9:1510299-1526383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1028 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1028 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10491859	chr9:1510299-1510300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12348788	chr9:1510314-1510315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73640491	chr9:1510347-1510348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs368449107	chr9:1510361-1510362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184974911	chr9:1510363-1510364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71511865	chr9:1510382-1510383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371240993	chr9:1510388-1510389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545816230	chr9:1510428-1510429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73376155	chr9:1510431-1510432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115746905	chr9:1510435-1510436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73640493	chr9:1510440-1510441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73376157	chr9:1510455-1510456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143750225	chr9:1510458-1510459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548201660	chr9:1510467-1510468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550885988	chr9:1510477-1510478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10491858	chr9:1510495-1510496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189046929	chr9:1510498-1510499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547017852	chr9:1510540-1510541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373966773	chr9:1510550-1510551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566804619	chr9:1510559-1510560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7872925	chr9:1510568-1510569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs386731561	chr9:1510588-1510589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7859562	chr9:1510590-1510591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs537268773	chr9:1510630-1510631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557275621	chr9:1510691-1510692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577248929	chr9:1510700-1510701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552114952	chr9:1510701-1510702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552938639	chr9:1510715-1510716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375448912	chr9:1510718-1510719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538092404	chr9:1510727-1510728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386731562	chr9:1510745-1510746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541927108	chr9:1510747-1510748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181714003	chr9:1510750-1510751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199576273	chr9:1510751-1510752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144093272	chr9:1510755-1510756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7873207	chr9:1510756-1510757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564435875	chr9:1510806-1510807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533680554	chr9:1510815-1510816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7859922	chr9:1510819-1510820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs56376334	chr9:1510832-1510833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114097698	chr9:1510847-1510848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10810324	chr9:1510848-1510849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141145425	chr9:1510852-1510853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150757637	chr9:1510864-1510865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184833840	chr9:1510865-1510866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10810325	chr9:1510881-1510882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7859951	chr9:1510885-1510886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs56400363	chr9:1510887-1510888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189543938	chr9:1510888-1510889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566353780	chr9:1510898-1510899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1504800-1513800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1511000-1511200	Enhancers	NHEK	skin
3	chr9:1512600-1513000	Enhancers	Fetal Muscle Leg	muscle
4	chr9:1512800-1514200	Enhancers	NHEK	skin
5	chr9:1513000-1513400	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:1513000-1513800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:1513200-1514000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:1513400-1514800	Enhancers	Fetal Muscle Leg	muscle
9	chr9:1513800-1514600	Enhancers	Adipose Nuclei	Adipose
10	chr9:1514000-1514800	Enhancers	Psoas Muscle	Psoas
11	chr9:1514400-1515000	Enhancers	Fetal Stomach	stomach
12	chr9:1514400-1515800	Enhancers	GM12878-XiMat	blood
13	chr9:1514600-1522600	Weak transcription	Adipose Nuclei	Adipose
14	chr9:1514800-1521600	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:1515000-1515600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr9:1515600-1516000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:1515600-1516000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr9:1515600-1516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr9:1515800-1516200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr9:1521600-1522200	Enhancers	Fetal Muscle Leg	muscle
21	chr9:1521600-1523600	Enhancers	GM12878-XiMat	blood
22	chr9:1521800-1523000	Enhancers	Fetal Lung	lung
23	chr9:1522200-1522600	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:1522600-1523400	Enhancers	Fetal Muscle Leg	muscle
25	chr9:1522600-1523800	Enhancers	Adipose Nuclei	Adipose
26	chr9:1523400-1527800	Weak transcription	Fetal Muscle Leg	muscle

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