Variant report

Variant	nsv528542
Chromosome Location	chr9:26509378-26515052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548508453	chr9:26510857-26510858	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs566811815	chr9:26510867-26510868	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs527565891	chr9:26510869-26510870	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs185170729	chr9:26510879-26510880	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs570595617	chr9:26510915-26510916	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs189930168	chr9:26510949-26510950	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs570201562	chr9:26510961-26510962	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs17753877	chr9:26511000-26511001	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs552910802	chr9:26511235-26511236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557594301	chr9:26511276-26511277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12336208	chr9:26511294-26511295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527610400	chr9:26511316-26511317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552411652	chr9:26511341-26511342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147865683	chr9:26511346-26511347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192062131	chr9:26511347-26511348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549561118	chr9:26511357-26511358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568254022	chr9:26511362-26511363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558829462	chr9:26511379-26511380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535541005	chr9:26511385-26511386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183778893	chr9:26511391-26511392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377010197	chr9:26511413-26511414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544177807	chr9:26511467-26511468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35414024	chr9:26511468-26511469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558391367	chr9:26511506-26511507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114418689	chr9:26511529-26511530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140453346	chr9:26511570-26511571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555979725	chr9:26511588-26511589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34876072	chr9:26511604-26511605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574611583	chr9:26511674-26511675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138080562	chr9:26511679-26511680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370525059	chr9:26511683-26511684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71508677	chr9:26511749-26511750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541915704	chr9:26511750-26511751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559905359	chr9:26511767-26511768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111711229	chr9:26511774-26511775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188020464	chr9:26511807-26511808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572394858	chr9:26511814-26511815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192564336	chr9:26511815-26511816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113371414	chr9:26511819-26511820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7867285	chr9:26511835-26511836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs145423110	chr9:26511839-26511840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149187582	chr9:26511846-26511847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62544373	chr9:26511876-26511877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs145130531	chr9:26511910-26511911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547452036	chr9:26511932-26511933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565952516	chr9:26511971-26511972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17753889	chr9:26512020-26512021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551484360	chr9:26512051-26512052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570370751	chr9:26512058-26512059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537717413	chr9:26512105-26512106	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26510800-26511000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:26511200-26511400	Enhancers	Fetal Kidney	kidney
3	chr9:26511400-26512400	Weak transcription	Fetal Kidney	kidney
4	chr9:26512400-26512600	Enhancers	Fetal Kidney	kidney

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