Variant report

Variant	esv2547119
Chromosome Location	chr9:98336055-98337442
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	chr9:98335123..98337480-chr9:98341108..98343369,3	MCF-7	breast:
2	chr9:98103822..98104598-chr9:98336133..98336924,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534908827	chr9:98336167-98336168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7038392	chr9:98336199-98336200	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141912253	chr9:98336212-98336213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369278800	chr9:98336215-98336216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568474769	chr9:98336242-98336243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567856471	chr9:98336274-98336275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535065719	chr9:98336312-98336313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7047169	chr9:98336314-98336315	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs143967880	chr9:98336319-98336320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574820513	chr9:98336389-98336390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145942180	chr9:98336405-98336406	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191516023	chr9:98336475-98336476	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs542024035	chr9:98336492-98336493	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs72754349	chr9:98336552-98336553	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs115601757	chr9:98336554-98336555	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs199815655	chr9:98336575-98336576	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs183709140	chr9:98336605-98336606	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs542366634	chr9:98336630-98336631	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs563641718	chr9:98336633-98336634	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs373940456	chr9:98336634-98336635	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112085738	chr9:98336671-98336672	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188029907	chr9:98336725-98336726	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs115204217	chr9:98336730-98336731	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs371200401	chr9:98336734-98336735	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552790120	chr9:98336739-98336740	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs564673837	chr9:98336775-98336776	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs192492189	chr9:98336796-98336797	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546912772	chr9:98336804-98336805	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113868408	chr9:98336809-98336810	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs111896098	chr9:98336854-98336855	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs535148726	chr9:98336865-98336866	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs368636364	chr9:98336873-98336874	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs112205861	chr9:98336885-98336886	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs59685813	chr9:98336894-98336895	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550276473	chr9:98336904-98336905	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs113514880	chr9:98336911-98336912	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs386736479	chr9:98336941-98336942	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs149167959	chr9:98336946-98336947	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs185364772	chr9:98336956-98336957	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs59011887	chr9:98336965-98336966	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs573094029	chr9:98336966-98336967	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs59999956	chr9:98336970-98336971	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs533971860	chr9:98336975-98336976	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs112412041	chr9:98336993-98336994	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376717324	chr9:98336995-98336996	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs542305364	chr9:98337015-98337016	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs112932340	chr9:98337016-98337017	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs563776908	chr9:98337055-98337056	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546174723	chr9:98337077-98337078	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs575591486	chr9:98337091-98337092	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	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
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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98332600-98350000	Weak transcription	Right Atrium	heart
2	chr9:98333800-98336400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:98333800-98336400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:98333800-98337400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:98335000-98338000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:98336400-98337000	Active TSS	A549	lung
7	chr9:98336400-98338000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:98336600-98337200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr9:98337000-98337400	Flanking Active TSS	A549	lung
10	chr9:98337000-98337600	Bivalent Enhancer	Placenta	Placenta
11	chr9:98337400-98337600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:98337400-98337800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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