Variant report

Variant	nsv521698
Chromosome Location	chr9:97333275-97338221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97322900..97325527-chr9:97331742..97334023,2	MCF-7	breast:
2	chr9:97333743..97336722-chr9:97359939..97362910,2	MCF-7	breast:
3	chr9:97334835..97337709-chr9:97386591..97389004,2	MCF-7	breast:
4	chr9:97219790..97221474-chr9:97332008..97334715,2	MCF-7	breast:
5	chr9:97328083..97332343-chr9:97333788..97336577,4	MCF-7	breast:
6	chr9:97333350..97335028-chr9:97336990..97339754,2	MCF-7	breast:
7	chr9:97333350..97335028-chr9:97336990..97339754,2	MCF-7	breast:
8	chr9:97332451..97335013-chr9:97342428..97345241,2	MCF-7	breast:

No data

Extended variants
information (count: 184 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3852401	chr9:97333275-97333276	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570592881	chr9:97333347-97333348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554164586	chr9:97333396-97333397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112655550	chr9:97333411-97333412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78140534	chr9:97333452-97333453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189589545	chr9:97333454-97333455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181907650	chr9:97333471-97333472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576492719	chr9:97333501-97333502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62578749	chr9:97333524-97333525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3824485	chr9:97333550-97333551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532793208	chr9:97333552-97333553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73653486	chr9:97333630-97333631	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559659069	chr9:97333683-97333684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111364134	chr9:97333696-97333697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375435231	chr9:97333705-97333706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529636593	chr9:97333745-97333746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200434975	chr9:97333751-97333752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569397172	chr9:97333755-97333756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369503726	chr9:97333757-97333758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372755885	chr9:97333765-97333766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144416702	chr9:97333768-97333769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200244771	chr9:97333770-97333771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536762747	chr9:97333776-97333777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554337531	chr9:97333781-97333782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552321762	chr9:97333795-97333796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201554574	chr9:97333800-97333801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs41281156	chr9:97333801-97333802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142583559	chr9:97333807-97333808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199525966	chr9:97333814-97333815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201283011	chr9:97333815-97333816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61753274	chr9:97333824-97333825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73531436	chr9:97333825-97333826	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555016192	chr9:97333852-97333853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139243565	chr9:97333872-97333873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150017904	chr9:97333878-97333879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372505356	chr9:97333882-97333883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377577284	chr9:97333899-97333900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145254842	chr9:97333906-97333907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111655429	chr9:97333927-97333928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3864789	chr9:97333969-97333970	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs3892541	chr9:97333987-97333988	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541273628	chr9:97334010-97334011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559595821	chr9:97334083-97334084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533832228	chr9:97334088-97334089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149156858	chr9:97334091-97334092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539671134	chr9:97334111-97334112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547750362	chr9:97334112-97334113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540236	chr9:97334118-97334119	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553145699	chr9:97334142-97334143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs644237	chr9:97334160-97334161	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97317200-97354000	Weak transcription	Gastric	stomach
2	chr9:97325800-97339200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:97326800-97339200	Weak transcription	Fetal Stomach	stomach
4	chr9:97331400-97340000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr9:97333200-97335400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr9:97334200-97334400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
7	chr9:97335000-97349600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:97335400-97336800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr9:97336800-97339600	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr9:97338200-97339600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr9:97338200-97339600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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