Variant report

Variant	esv17609
Chromosome Location	chr9:1718048-1719043
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	chr9:1718867-1718912	XLOC_007264

Extended variants
information (count: 66 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs747048	chr9:1718062-1718063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4989565	chr9:1718065-1718066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529037273	chr9:1718070-1718071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1809342	chr9:1718076-1718077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140586006	chr9:1718077-1718078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144246506	chr9:1718125-1718126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs747047	chr9:1718127-1718128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs747046	chr9:1718143-1718144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147351809	chr9:1718161-1718162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547521835	chr9:1718164-1718165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2616843	chr9:1718196-1718197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs80284836	chr9:1718241-1718242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536356835	chr9:1718263-1718264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13302096	chr9:1718272-1718273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188448813	chr9:1718284-1718285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561581322	chr9:1718296-1718297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138987668	chr9:1718302-1718303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1382183	chr9:1718324-1718325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs149907361	chr9:1718339-1718340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10810715	chr9:1718354-1718355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532591086	chr9:1718357-1718358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144930708	chr9:1718414-1718415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192180949	chr9:1718420-1718421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540342408	chr9:1718431-1718432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35109066	chr9:1718433-1718434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369659980	chr9:1718434-1718435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17797118	chr9:1718436-1718437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201823321	chr9:1718437-1718438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1932853	chr9:1718496-1718497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs117198098	chr9:1718524-1718525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10962867	chr9:1718534-1718535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528017333	chr9:1718535-1718536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1382182	chr9:1718536-1718537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149198066	chr9:1718548-1718549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143778301	chr9:1718556-1718557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549882217	chr9:1718583-1718584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146888104	chr9:1718615-1718616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140710696	chr9:1718643-1718644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557706787	chr9:1718703-1718704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1382181	chr9:1718709-1718710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs533844448	chr9:1718718-1718719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375008340	chr9:1718740-1718741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554078608	chr9:1718778-1718779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183907117	chr9:1718792-1718793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145662491	chr9:1718804-1718805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56062752	chr9:1718819-1718820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs576102019	chr9:1718820-1718821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2210921	chr9:1718830-1718831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565347349	chr9:1718835-1718836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186628512	chr9:1718836-1718837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1718000-1736800	Weak transcription	Adipose Nuclei	Adipose

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