Variant report

Variant	esv17094
Chromosome Location	chr9:24145509-24150358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRTA1-6	chr9:24146433-24146893	NONHSAT130486
2	lnc-DMRTA1-6	chr9:24146434-24146893	XLOC_007303

Extended variants
information (count: 52 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59886872	chr9:24146093-24146094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564785152	chr9:24146100-24146101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369227751	chr9:24146197-24146198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10812030	chr9:24146203-24146204	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560449142	chr9:24146243-24146244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547018354	chr9:24146271-24146272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541522337	chr9:24146283-24146284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113857624	chr9:24146296-24146297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146454204	chr9:24146301-24146302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535942566	chr9:24146326-24146327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2298619	chr9:24146392-24146393	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs531509180	chr9:24146425-24146426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61639549	chr9:24146426-24146427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537668410	chr9:24146427-24146428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557606125	chr9:24146428-24146429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2298620	chr9:24146436-24146437	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs140874468	chr9:24146448-24146449	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs2298621	chr9:24146465-24146466	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551579985	chr9:24146488-24146489	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs553634148	chr9:24146501-24146502	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs115393036	chr9:24146502-24146503	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs565660778	chr9:24146572-24146573	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs566687414	chr9:24146580-24146581	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs556017083	chr9:24146585-24146586	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs74997806	chr9:24146608-24146609	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs370297722	chr9:24146613-24146614	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs372553518	chr9:24146617-24146618	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs555976707	chr9:24146640-24146641	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs144792159	chr9:24146666-24146667	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs2298622	chr9:24146679-24146680	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs373479069	chr9:24146712-24146713	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs188629552	chr9:24146750-24146751	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs546459785	chr9:24146757-24146758	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs192803324	chr9:24146778-24146779	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs573994604	chr9:24146790-24146791	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs184117030	chr9:24146810-24146811	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs529305132	chr9:24146823-24146824	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs549423644	chr9:24146867-24146868	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs59392985	chr9:24146871-24146872	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs56151593	chr9:24146886-24146887	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551172332	chr9:24146908-24146909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190667001	chr9:24146936-24146937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60754763	chr9:24146947-24146948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs34828077	chr9:24146961-24146962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375265245	chr9:24146983-24146984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567235445	chr9:24146994-24146995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535881798	chr9:24147004-24147005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112013446	chr9:24147008-24147009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544520774	chr9:24147034-24147035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576059410	chr9:24147037-24147038	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24146000-24147200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:24146200-24146800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:24146400-24146800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr9:24146400-24146800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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