Variant report

Variant	nsv521481
Chromosome Location	chr7:33242474-33245128
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	chr7:33237252..33238973-chr7:33242666..33244868,2	K562	blood:
2	chr7:33237473..33239165-chr7:33243368..33246191,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10486524	chr7:33242474-33242475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116267528	chr7:33242576-33242577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77040704	chr7:33242581-33242582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528504699	chr7:33242597-33242598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540214746	chr7:33242682-33242683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142578111	chr7:33242750-33242751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs986554	chr7:33242760-33242761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150979382	chr7:33242823-33242824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551169627	chr7:33242867-33242868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140850724	chr7:33242898-33242899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34472482	chr7:33242936-33242937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374761522	chr7:33242962-33242963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569134804	chr7:33242988-33242989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377460147	chr7:33243002-33243003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536330131	chr7:33243023-33243024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146144960	chr7:33243060-33243061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184965150	chr7:33243065-33243066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534200529	chr7:33243070-33243071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147850463	chr7:33243094-33243095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577232669	chr7:33243101-33243102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs986553	chr7:33243151-33243152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs4590340	chr7:33243177-33243178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73097203	chr7:33243274-33243275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545269466	chr7:33243297-33243298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375507384	chr7:33243300-33243301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17396229	chr7:33243314-33243315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113024677	chr7:33243329-33243330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368716049	chr7:33243330-33243331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57019822	chr7:33243344-33243345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13241743	chr7:33243345-33243346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560198617	chr7:33243370-33243371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552985254	chr7:33243420-33243421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552163822	chr7:33243427-33243428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565207387	chr7:33243428-33243429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532643668	chr7:33243433-33243434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550894385	chr7:33243447-33243448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567389895	chr7:33243459-33243460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112598342	chr7:33243491-33243492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548345079	chr7:33243518-33243519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142322762	chr7:33243522-33243523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192372138	chr7:33243547-33243548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558970236	chr7:33243575-33243576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570893789	chr7:33243581-33243582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368051975	chr7:33243582-33243583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371859707	chr7:33243586-33243587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376446068	chr7:33243609-33243610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376077272	chr7:33243610-33243611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538129192	chr7:33243622-33243623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112100010	chr7:33243627-33243628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17150810	chr7:33243688-33243689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Williams-beuren syndrome	18553513	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33217800-33252400	Weak transcription	Aorta	Aorta
2	chr7:33218200-33252200	Weak transcription	Left Ventricle	heart
3	chr7:33230800-33248000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:33236400-33244400	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:33236400-33247800	Weak transcription	Fetal Heart	heart
6	chr7:33236800-33249200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:33239800-33242600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:33240600-33249800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:33241200-33243200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:33242600-33248000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links