Variant report

Variant	nsv521565
Chromosome Location	chr9:73467672-73468025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17470784	chr9:73467672-73467673	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560988253	chr9:73467694-73467695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140614614	chr9:73467735-73467736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549787616	chr9:73467740-73467741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564858776	chr9:73467748-73467749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75338229	chr9:73467829-73467830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552074468	chr9:73467832-73467833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567086763	chr9:73467843-73467844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76609193	chr9:73467848-73467849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1415226	chr9:73467853-73467854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184244356	chr9:73467878-73467879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35387614	chr9:73467879-73467880	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556558129	chr9:73467880-73467881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10868911	chr9:73467904-73467905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189056154	chr9:73467907-73467908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553607588	chr9:73467927-73467928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142851887	chr9:73467988-73467989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11142620	chr9:73468013-73468014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs17470826	chr9:73468025-73468026	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73427600-73483400	Weak transcription	Aorta	Aorta
2	chr9:73448200-73473600	Weak transcription	Fetal Kidney	kidney
3	chr9:73448400-73469000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr9:73450600-73477600	Weak transcription	Ovary	ovary
5	chr9:73452000-73469600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:73455600-73480600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:73457200-73485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:73457800-73480600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:73461400-73482000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:73463600-73471000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:73463600-73472800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:73466200-73483000	Weak transcription	Fetal Heart	heart
13	chr9:73467400-73468400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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