Variant report

Variant	nsv892038
Chromosome Location	chr9:1628468-1654030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCA2-2	chr9:1633518-1633545	XLOC_007264

Extended variants
information (count: 1342 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60949914	chr9:1630006-1630007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529155309	chr9:1630008-1630009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112945987	chr9:1630010-1630011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374814847	chr9:1630020-1630021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150238492	chr9:1630028-1630029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59492893	chr9:1630035-1630036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146776643	chr9:1630045-1630046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531255344	chr9:1630075-1630076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550967950	chr9:1630079-1630080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139638894	chr9:1630080-1630081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528513640	chr9:1630124-1630125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533907106	chr9:1630137-1630138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554048061	chr9:1630144-1630145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532315038	chr9:1630162-1630163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144286861	chr9:1630188-1630189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146737389	chr9:1630194-1630195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200118261	chr9:1631812-1631813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201073120	chr9:1631813-1631814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200655772	chr9:1631827-1631828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202061028	chr9:1631830-1631831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199682930	chr9:1631831-1631832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200591618	chr9:1631832-1631833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567446389	chr9:1631877-1631878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186083574	chr9:1631881-1631882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189277138	chr9:1631887-1631888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7872484	chr9:1631899-1631900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550532415	chr9:1631920-1631921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75504494	chr9:1631945-1631946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370188132	chr9:1631946-1631947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546820360	chr9:1631958-1631959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386731583	chr9:1631960-1631961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200044744	chr9:1631962-1631963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577014712	chr9:1631964-1631965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201187047	chr9:1631967-1631968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181982083	chr9:1631980-1631981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534763655	chr9:1631987-1631988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548415828	chr9:1632051-1632052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114781348	chr9:1632058-1632059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537367116	chr9:1632071-1632072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7860500	chr9:1632074-1632075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs576801056	chr9:1632089-1632090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149934902	chr9:1632091-1632092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144991526	chr9:1632092-1632093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541845067	chr9:1632094-1632095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530271004	chr9:1632101-1632102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560180768	chr9:1632149-1632150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79740419	chr9:1632167-1632168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561965634	chr9:1632172-1632173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565666479	chr9:1632173-1632174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12553478	chr9:1632188-1632189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1630000-1630200	Enhancers	Brain Substantia Nigra	brain
2	chr9:1631800-1659000	Weak transcription	Adipose Nuclei	Adipose
3	chr9:1638800-1639800	Enhancers	NHEK	skin
4	chr9:1639000-1639600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:1647400-1648400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:1647400-1648400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:1647400-1648800	Enhancers	NHEK	skin
8	chr9:1647800-1648600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:1648200-1648600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:1648200-1648600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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