Variant report

Variant	nsv982340
Chromosome Location	chr9:117644577-117645935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570042799	chr9:117644607-117644608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371700154	chr9:117644614-117644615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56351925	chr9:117644632-117644633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201937189	chr9:117644639-117644640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10817679	chr9:117644640-117644641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141308130	chr9:117644645-117644646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113173647	chr9:117644656-117644657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534424291	chr9:117644657-117644658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557792527	chr9:117644660-117644661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35049777	chr9:117644675-117644676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186528591	chr9:117644682-117644683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537211923	chr9:117644684-117644685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569085324	chr9:117644692-117644693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557169110	chr9:117644713-117644714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574018417	chr9:117644726-117644727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542933312	chr9:117644729-117644730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190121763	chr9:117644733-117644734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572357580	chr9:117644743-117644744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150384635	chr9:117644747-117644748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182076241	chr9:117644759-117644760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533246518	chr9:117644786-117644787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529885671	chr9:117644787-117644788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185145667	chr9:117644805-117644806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76336665	chr9:117644815-117644816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566562269	chr9:117644847-117644848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375145369	chr9:117644874-117644875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369629889	chr9:117644878-117644879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371645499	chr9:117644885-117644886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190791505	chr9:117644896-117644897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112522846	chr9:117644901-117644902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549220331	chr9:117644907-117644908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527284640	chr9:117644919-117644920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58640358	chr9:117644939-117644940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149045939	chr9:117644969-117644970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7028891	chr9:117645015-117645016	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs369356950	chr9:117645058-117645059	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184019145	chr9:117645059-117645060	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571344935	chr9:117645073-117645074	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537124441	chr9:117645103-117645104	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557232900	chr9:117645104-117645105	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567465759	chr9:117645208-117645209	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536551690	chr9:117645241-117645242	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188610520	chr9:117645295-117645296	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572372364	chr9:117645314-117645315	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192990244	chr9:117645327-117645328	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143030204	chr9:117645341-117645342	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111988194	chr9:117645354-117645355	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543509900	chr9:117645355-117645356	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563545896	chr9:117645357-117645358	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529408547	chr9:117645404-117645405	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117633000-117647400	Weak transcription	Stomach Mucosa	stomach
2	chr9:117642400-117649000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr9:117643000-117652000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:117643200-117647200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:117643800-117645000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr9:117643800-117651000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr9:117644000-117645200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr9:117645000-117645800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
9	chr9:117645200-117646600	Enhancers	Monocytes-CD14+_RO01746	blood

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