Variant report

Variant	nsv416250
Chromosome Location	chr9:98448883-98452564
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: 138 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62561402	chr9:98448917-98448918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62561403	chr9:98448919-98448920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571615469	chr9:98448920-98448921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1889207	chr9:98448928-98448929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs578146056	chr9:98448955-98448956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398068798	chr9:98449100-98449101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56383834	chr9:98449101-98449102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114315588	chr9:98449103-98449104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376651280	chr9:98449110-98449111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553857198	chr9:98449112-98449113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566124280	chr9:98449118-98449119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139900606	chr9:98449119-98449120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555259214	chr9:98449125-98449126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117833536	chr9:98449190-98449191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10816414	chr9:98449237-98449238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558234205	chr9:98449264-98449265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576852867	chr9:98449293-98449294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541151777	chr9:98449339-98449340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112847431	chr9:98449438-98449439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529683497	chr9:98449459-98449460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541435088	chr9:98449481-98449482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563197010	chr9:98449486-98449487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530735467	chr9:98449508-98449509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7857949	chr9:98449514-98449515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190604262	chr9:98449536-98449537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115151421	chr9:98449549-98449550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113350219	chr9:98449648-98449649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183360628	chr9:98449660-98449661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62561404	chr9:98449687-98449688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6478589	chr9:98449710-98449711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555022156	chr9:98449735-98449736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570327848	chr9:98449779-98449780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537786418	chr9:98449782-98449783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146682022	chr9:98449829-98449830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369283759	chr9:98449848-98449849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7867054	chr9:98449979-98449980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs115338061	chr9:98449990-98449991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141697297	chr9:98449991-98449992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72102555	chr9:98449992-98449993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373186864	chr9:98449993-98449994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368211003	chr9:98450010-98450011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7034020	chr9:98450027-98450028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373445775	chr9:98450033-98450034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574198896	chr9:98450045-98450046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150334792	chr9:98450085-98450086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574603631	chr9:98450095-98450096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562978416	chr9:98450108-98450109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575425977	chr9:98450123-98450124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144885726	chr9:98450124-98450125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564116177	chr9:98450176-98450177	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
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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98447200-98450800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:98447800-98452800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:98450800-98451000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr9:98451000-98452800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:98451400-98451800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr9:98452000-98452400	Enhancers	Fetal Intestine Small	intestine

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