Variant report

Variant	nsv972612
Chromosome Location	chr9:17173003-17173639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138326619	chr9:17173006-17173007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563368629	chr9:17173040-17173041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182123194	chr9:17173058-17173059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186753190	chr9:17173075-17173076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542434975	chr9:17173085-17173086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141997977	chr9:17173092-17173093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532348546	chr9:17173093-17173094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116090914	chr9:17173101-17173102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565790425	chr9:17173109-17173110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557565187	chr9:17173164-17173165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190963707	chr9:17173180-17173181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539972634	chr9:17173183-17173184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76095128	chr9:17173194-17173195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145635246	chr9:17173248-17173249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188048994	chr9:17173261-17173262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193054163	chr9:17173270-17173271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553260554	chr9:17173344-17173345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570970723	chr9:17173365-17173366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574952091	chr9:17173418-17173419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35773417	chr9:17173419-17173420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56764512	chr9:17173422-17173423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184349332	chr9:17173478-17173479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557023791	chr9:17173484-17173485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570934923	chr9:17173496-17173497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532047051	chr9:17173497-17173498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547161756	chr9:17173502-17173503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs16935390	chr9:17173516-17173517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187583629	chr9:17173523-17173524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192460789	chr9:17173582-17173583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532280451	chr9:17173609-17173610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184876680	chr9:17173614-17173615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
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
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	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
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17156200-17177400	Weak transcription	Fetal Stomach	stomach
2	chr9:17156200-17178200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:17156200-17178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:17159800-17195600	Weak transcription	Aorta	Aorta
5	chr9:17169600-17173400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:17169600-17181800	Weak transcription	Fetal Lung	lung
7	chr9:17171800-17177600	Weak transcription	Liver	Liver
8	chr9:17172000-17178200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:17172200-17193600	Weak transcription	Pancreas	Pancrea
10	chr9:17173400-17174000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:17173600-17174000	Enhancers	Muscle Satellite Cultured Cells	--

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