Variant report

Variant	nsv1024068
Chromosome Location	chr9:22512564-22555567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRTA1-8	chr9:22524260-22524507	NONHSAT130438
2	lnc-DMRTA1-8	chr9:22521541-22521617	NONHSAT130438
3	lnc-DMRTA1-8	chr9:22532908-22532978	NONHSAT130438
4	lnc-DMRTA1-8	chr9:22535270-22535651	NONHSAT130438

Extended variants
information (count: 692 )
Associated
traits (count: 155 )

Variant overlapped rSNPs/rCNVs (count:692 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566886542	chr9:22515403-22515404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535834250	chr9:22515441-22515442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs59087447	chr9:22515494-22515495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17694996	chr9:22515502-22515503	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs537248682	chr9:22515507-22515508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557080427	chr9:22515510-22515511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576958227	chr9:22515511-22515512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545910399	chr9:22515555-22515556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1392086	chr9:22515595-22515596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188598589	chr9:22515606-22515607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376147121	chr9:22515620-22515621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541396161	chr9:22515626-22515627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150254637	chr9:22515657-22515658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77662889	chr9:22515688-22515689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563622340	chr9:22515736-22515737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115655573	chr9:22515737-22515738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1392087	chr9:22515738-22515739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533342579	chr9:22515755-22515756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547107166	chr9:22515785-22515786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566820877	chr9:22515831-22515832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570215500	chr9:22515858-22515859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75662847	chr9:22515874-22515875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569635208	chr9:22515880-22515881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74900295	chr9:22515893-22515894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116999652	chr9:22515894-22515895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528524398	chr9:22515896-22515897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547074328	chr9:22515917-22515918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549354493	chr9:22515946-22515947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62572298	chr9:22515957-22515958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537387540	chr9:22515980-22515981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556951529	chr9:22515997-22515998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12684185	chr9:22516060-22516061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539222359	chr9:22516125-22516126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553053228	chr9:22516170-22516171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191946745	chr9:22516202-22516203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541433265	chr9:22516253-22516254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556045968	chr9:22516260-22516261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138881553	chr9:22516276-22516277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574890887	chr9:22516298-22516299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544917990	chr9:22516318-22516319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564610912	chr9:22516345-22516346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533589473	chr9:22516350-22516351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567702867	chr9:22516374-22516375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34433795	chr9:22516413-22516414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10811718	chr9:22516421-22516422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs529368908	chr9:22516431-22516432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549492416	chr9:22516433-22516434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149013052	chr9:22516441-22516442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373599042	chr9:22516469-22516470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367779443	chr9:22516478-22516479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:155)

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
Breast cancer	21858162	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
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	17142309	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	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	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-small cell lung cancer	16651412	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22515400-22515600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:22515600-22516800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:22516800-22517400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:22518800-22519200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:22522200-22522800	Enhancers	Fetal Brain Female	brain
6	chr9:22528800-22530000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr9:22528800-22531000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:22529400-22530000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr9:22529400-22530200	Enhancers	Adipose Nuclei	Adipose
10	chr9:22529600-22529800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:22529600-22530600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr9:22529800-22530600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:22529800-22531000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:22530400-22530600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:22533600-22539400	Weak transcription	Pancreas	Pancrea
16	chr9:22537400-22539000	Weak transcription	Liver	Liver
17	chr9:22539000-22540200	Strong transcription	Liver	Liver
18	chr9:22539400-22539600	ZNF genes & repeats	Pancreas	Pancrea
19	chr9:22540200-22541800	Weak transcription	Liver	Liver
20	chr9:22549000-22549400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr9:22549000-22549800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:22549000-22549800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr9:22549200-22549600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr9:22549200-22550200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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