Variant report

Variant	nsv524473
Chromosome Location	chr7:33302648-33304218
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	chr7:33288330..33291319-chr7:33303929..33306157,2	K562	blood:
2	chr7:33299351..33301852-chr7:33302490..33303993,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12673354	chr7:33302648-33302649	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117807130	chr7:33302686-33302687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552145164	chr7:33302695-33302696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148992591	chr7:33302700-33302701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531482209	chr7:33302705-33302706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200536265	chr7:33302715-33302716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370001947	chr7:33302717-33302718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71551995	chr7:33302718-33302719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61552091	chr7:33302719-33302720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550021441	chr7:33302727-33302728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147747261	chr7:33302765-33302766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529036851	chr7:33302769-33302770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12671191	chr7:33302774-33302775	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115032215	chr7:33302776-33302777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539572261	chr7:33302803-33302804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555692886	chr7:33302886-33302887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71551996	chr7:33302969-33302970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200245626	chr7:33302970-33302971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141927514	chr7:33302999-33303000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556778898	chr7:33303036-33303037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371826437	chr7:33303040-33303041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575037088	chr7:33303072-33303073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542408530	chr7:33303097-33303098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193131361	chr7:33303106-33303107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533102954	chr7:33303206-33303207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138685263	chr7:33303264-33303265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376386143	chr7:33303287-33303288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545922312	chr7:33303323-33303324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141196644	chr7:33303347-33303348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546571705	chr7:33303367-33303368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559931946	chr7:33303368-33303369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544816218	chr7:33303489-33303490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376125165	chr7:33303512-33303513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553827319	chr7:33303534-33303535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543456032	chr7:33303587-33303588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562011776	chr7:33303695-33303696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182770671	chr7:33303732-33303733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56293097	chr7:33303778-33303779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565908536	chr7:33303828-33303829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs41276009	chr7:33303848-33303849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs112087780	chr7:33303867-33303868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551459361	chr7:33303900-33303901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140169161	chr7:33303905-33303906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537007633	chr7:33303907-33303908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145385875	chr7:33303950-33303951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201231133	chr7:33303962-33303963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373380343	chr7:33303984-33303985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371788504	chr7:33304008-33304009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187651906	chr7:33304019-33304020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553926540	chr7:33304055-33304056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33283800-33316000	Weak transcription	Ovary	ovary
2	chr7:33288800-33317600	Weak transcription	Gastric	stomach
3	chr7:33289400-33309000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:33289600-33310800	Weak transcription	Psoas Muscle	Psoas
5	chr7:33290000-33316200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:33290800-33309000	Weak transcription	Fetal Stomach	stomach
7	chr7:33290800-33316400	Weak transcription	Aorta	Aorta
8	chr7:33291200-33316000	Weak transcription	Primary T cells from cord blood	blood
9	chr7:33291600-33305200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:33291800-33307600	Weak transcription	Left Ventricle	heart
11	chr7:33297400-33310800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:33300400-33309800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:33300600-33303000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:33302200-33317400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:33302600-33308800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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