Variant report

Variant	nsv613885
Chromosome Location	chr9:24720232-24745911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570576114	chr9:24737408-24737409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs373165381	chr9:24737418-24737419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs539361833	chr9:24737505-24737506	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375932028	chr9:24737510-24737511	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs553198165	chr9:24737520-24737521	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs914713	chr9:24737563-24737564	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs146474074	chr9:24737566-24737567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs17744797	chr9:24737593-24737594	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141008260	chr9:24737597-24737598	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs544278308	chr9:24737615-24737616	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs563739445	chr9:24737617-24737618	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112339695	chr9:24737619-24737620	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs577336086	chr9:24737629-24737630	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546203857	chr9:24737648-24737649	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs182707242	chr9:24737658-24737659	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs528502702	chr9:24737666-24737667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs548166020	chr9:24737692-24737693	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs561891363	chr9:24737702-24737703	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs530913390	chr9:24737805-24737806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550618046	chr9:24737806-24737807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143424926	chr9:24737841-24737842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539590567	chr9:24737869-24737870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569717321	chr9:24737900-24737901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546605698	chr9:24737901-24737902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566751942	chr9:24737917-24737918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs914714	chr9:24737964-24737965	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs377528135	chr9:24737974-24737975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72712058	chr9:24737982-24737983	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374391465	chr9:24738014-24738015	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377453780	chr9:24738030-24738031	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151271727	chr9:24738093-24738094	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113703303	chr9:24738094-24738095	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557808995	chr9:24738096-24738097	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1888994	chr9:24738098-24738099	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs113961549	chr9:24738127-24738128	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553428824	chr9:24738152-24738153	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34096523	chr9:24738158-24738159	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs542069586	chr9:24738159-24738160	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74836680	chr9:24738162-24738163	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369313361	chr9:24738163-24738164	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186982542	chr9:24738181-24738182	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140516119	chr9:24738186-24738187	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564581104	chr9:24738190-24738191	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535164221	chr9:24738199-24738200	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550690053	chr9:24738220-24738221	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs546771196	chr9:24738228-24738229	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs373165360	chr9:24738271-24738272	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs2383448	chr9:24738272-24738273	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376331713	chr9:24738282-24738283	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs2383449	chr9:24738310-24738311	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:143)

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
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
Esophageal adenocarcinoma	18519675	CNVD
Lung cancer	21569311	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24737400-24737800	Active TSS	Fetal Heart	heart
2	chr9:24737800-24738200	Enhancers	Fetal Muscle Trunk	muscle
3	chr9:24738000-24739000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:24738400-24739000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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