Variant report

Variant	nsv524323
Chromosome Location	chr9:98452793-98453680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:98446736..98448375-chr9:98451146..98453789,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4743181	chr9:98452793-98452794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs529556923	chr9:98452802-98452803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551136293	chr9:98452811-98452812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569376686	chr9:98452815-98452816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533045726	chr9:98452864-98452865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186402210	chr9:98452925-98452926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566582973	chr9:98452950-98452951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533724304	chr9:98452955-98452956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17372603	chr9:98452966-98452967	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567533596	chr9:98452987-98452988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117502924	chr9:98453049-98453050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556302523	chr9:98453072-98453073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189283478	chr9:98453135-98453136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577800894	chr9:98453195-98453196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538837009	chr9:98453219-98453220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557917524	chr9:98453234-98453235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12682870	chr9:98453245-98453246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540198123	chr9:98453297-98453298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561779913	chr9:98453307-98453308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11787988	chr9:98453344-98453345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111993700	chr9:98453374-98453375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544623201	chr9:98453435-98453436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113296016	chr9:98453583-98453584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548703012	chr9:98453622-98453623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10739231	chr9:98453680-98453681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:73)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Pancreatic cancer	17952125	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98447800-98452800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:98451000-98452800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:98452600-98453000	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr9:98452800-98453000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:98452800-98453000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr9:98453000-98453200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:98453000-98458600	Weak transcription	Rectal Mucosa Donor 31	rectum

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