Variant report

Variant	esv2761262
Chromosome Location	chr9:1293354-1300274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
2	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
3	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
4	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
5	lnc-DMRT2-2	chr9:1298286-1298431	XLOC_007263
6	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
7	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
8	lnc-DMRT2-2	chr9:1299313-1299412	NONHSAT129967
9	lnc-DMRT2-2	chr9:1298276-1298431	NONHSAT129967
10	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
11	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263

No data

Variant related genes	Relation type
AP2M1	miRNA target sites

Extended variants
information (count: 152 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557135087	chr9:1297809-1297810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190003028	chr9:1297850-1297851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34834120	chr9:1297852-1297853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539446541	chr9:1297856-1297857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140410362	chr9:1297876-1297877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34485636	chr9:1297881-1297882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546557227	chr9:1297887-1297888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573186248	chr9:1297922-1297923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542789430	chr9:1297924-1297925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542126335	chr9:1297929-1297930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372962085	chr9:1297935-1297936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559625585	chr9:1297945-1297946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555947815	chr9:1297946-1297947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10809852	chr9:1297949-1297950	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181641383	chr9:1297964-1297965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185544932	chr9:1297980-1297981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188442679	chr9:1297988-1297989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545793224	chr9:1298007-1298008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144257046	chr9:1298053-1298054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528418005	chr9:1298066-1298067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548139030	chr9:1298104-1298105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568254684	chr9:1298116-1298117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530609587	chr9:1298134-1298135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78960426	chr9:1298143-1298144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58359592	chr9:1298149-1298150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573642947	chr9:1298177-1298178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180953597	chr9:1298180-1298181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552967672	chr9:1298190-1298191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566497870	chr9:1298196-1298197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11998942	chr9:1298223-1298224	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555739784	chr9:1298227-1298228	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs200627430	chr9:1298255-1298256	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs544475934	chr9:1298261-1298262	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs1340012	chr9:1298291-1298292	Enhancers Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576995325	chr9:1298345-1298346	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs565397760	chr9:1298358-1298359	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs116434104	chr9:1298376-1298377	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs77701938	chr9:1298382-1298383	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs572712153	chr9:1298386-1298387	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs12001409	chr9:1298388-1298389	Enhancers Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs185010293	chr9:1298411-1298412	Flanking Active TSS Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs201736396	chr9:1298412-1298413	Flanking Active TSS Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs369371954	chr9:1298430-1298431	Flanking Active TSS Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs192459281	chr9:1298457-1298458	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs372818102	chr9:1298459-1298460	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs141740230	chr9:1298473-1298474	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs1340013	chr9:1298487-1298488	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535469192	chr9:1298524-1298525	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs1340014	chr9:1298532-1298533	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs373493521	chr9:1298558-1298559	Flanking Active TSS Enhancers Active TSS	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1297800-1298200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr9:1297800-1298200	Enhancers	Adipose Nuclei	Adipose
3	chr9:1297800-1298400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:1298000-1298800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:1298200-1300000	Active TSS	Adipose Nuclei	Adipose
6	chr9:1298400-1298800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:1298800-1299800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:1298800-1303600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:1300000-1300800	Flanking Active TSS	Adipose Nuclei	Adipose

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