Variant report

Variant	nsv520604
Chromosome Location	chr9:26546080-26551726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 279 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12337751	chr9:26546080-26546081	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577948921	chr9:26546083-26546084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544444161	chr9:26546128-26546129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539521647	chr9:26546131-26546132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140753169	chr9:26546138-26546139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115017505	chr9:26546166-26546167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76075952	chr9:26546231-26546232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560988920	chr9:26546241-26546242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2383696	chr9:26546258-26546259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528445983	chr9:26546280-26546281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10118730	chr9:26546299-26546300	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185042733	chr9:26546310-26546311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532617381	chr9:26546338-26546339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544820719	chr9:26546339-26546340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188334428	chr9:26546358-26546359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386733844	chr9:26546431-26546432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12337846	chr9:26546432-26546433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73642953	chr9:26546433-26546434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2148602	chr9:26546480-26546481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553320692	chr9:26546506-26546507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373219998	chr9:26546563-26546564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200381180	chr9:26546580-26546581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577980200	chr9:26546605-26546606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531850657	chr9:26546692-26546693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12337967	chr9:26546715-26546716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148659481	chr9:26546723-26546724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371652528	chr9:26546728-26546729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372651629	chr9:26546734-26546735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557080202	chr9:26546735-26546736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575336904	chr9:26546737-26546738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2182583	chr9:26546738-26546739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs375349215	chr9:26546742-26546743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536387818	chr9:26546744-26546745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201600200	chr9:26546745-26546746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539220997	chr9:26546756-26546757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373056781	chr9:26546768-26546769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561029602	chr9:26546835-26546836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181106660	chr9:26546841-26546842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540205551	chr9:26546857-26546858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79457916	chr9:26546869-26546870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186702699	chr9:26546887-26546888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550979573	chr9:26546895-26546896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148830948	chr9:26546905-26546906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530213857	chr9:26546907-26546908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549136114	chr9:26546929-26546930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567336775	chr9:26546936-26546937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534625198	chr9:26546956-26546957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12551612	chr9:26546985-26546986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs115773877	chr9:26547036-26547037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114528012	chr9:26547048-26547049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	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
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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	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
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26543200-26546800	Weak transcription	Fetal Brain Male	brain
2	chr9:26546000-26546400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:26546400-26548000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:26548000-26549000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr9:26548000-26550000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:26548000-26550200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:26548200-26548600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr9:26548200-26548600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:26548200-26550000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:26548400-26549000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr9:26548600-26552400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:26548800-26549000	Enhancers	Aorta	Aorta
13	chr9:26548800-26549400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr9:26549000-26550600	Weak transcription	Aorta	Aorta
15	chr9:26550600-26553000	Enhancers	Aorta	Aorta

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