Variant report

Variant	esv13498
Chromosome Location	chr9:96679706-96680751
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	chr9:96673909..96678084-chr9:96678410..96682250,3	K562	blood:
2	chr9:96678251..96680846-chr9:96690063..96691952,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111980506	chr9:96679779-96679780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138863449	chr9:96679794-96679795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187409737	chr9:96679801-96679802	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528379065	chr9:96679816-96679817	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs546778569	chr9:96679835-96679836	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs568302729	chr9:96679853-96679854	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558138791	chr9:96679859-96679860	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs557124098	chr9:96679862-96679863	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568747116	chr9:96679935-96679936	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs115992149	chr9:96679940-96679941	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs199742575	chr9:96679966-96679967	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557468321	chr9:96679970-96679971	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs573440547	chr9:96679971-96679972	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540562916	chr9:96679974-96679975	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs370479333	chr9:96679979-96679980	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs10123220	chr9:96680001-96680002	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562482976	chr9:96680011-96680012	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370916991	chr9:96680014-96680015	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12353447	chr9:96680040-96680041	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs544282978	chr9:96680054-96680055	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562965182	chr9:96680071-96680072	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575869488	chr9:96680076-96680077	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533288101	chr9:96680091-96680092	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12380877	chr9:96680113-96680114	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs142800557	chr9:96680123-96680124	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73516179	chr9:96680155-96680156	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12350414	chr9:96680172-96680173	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189306952	chr9:96680197-96680198	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75673943	chr9:96680207-96680208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12344756	chr9:96680221-96680222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12349429	chr9:96680255-96680256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs34589520	chr9:96680279-96680280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs34652157	chr9:96680292-96680293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557723772	chr9:96680305-96680306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114643597	chr9:96680324-96680325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116870722	chr9:96680329-96680330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546440929	chr9:96680341-96680342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375706334	chr9:96680345-96680346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555674016	chr9:96680374-96680375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11791552	chr9:96680395-96680396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs555067807	chr9:96680413-96680414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556483994	chr9:96680414-96680415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11787549	chr9:96680428-96680429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545212978	chr9:96680442-96680443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35319739	chr9:96680456-96680457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34880630	chr9:96680477-96680478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs527717125	chr9:96680511-96680512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553091806	chr9:96680519-96680520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58501549	chr9:96680521-96680522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529229293	chr9:96680533-96680534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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
Mental retardation	21693067	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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD
Effusion lymphoma	18079361	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96677000-96685200	Weak transcription	Spleen	Spleen
2	chr9:96679000-96680000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:96679000-96682600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:96679600-96680200	Enhancers	Gastric	stomach
5	chr9:96679800-96680200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
6	chr9:96679800-96682400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:96680200-96687200	Weak transcription	Gastric	stomach

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