Variant report

Variant	nsv966964
Chromosome Location	chr3:158859765-158860658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578180927	chr3:158859843-158859844	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146641002	chr3:158859860-158859861	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553702380	chr3:158859870-158859871	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565745402	chr3:158859886-158859887	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536336274	chr3:158859902-158859903	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539266318	chr3:158859920-158859921	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115498987	chr3:158859922-158859923	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7641372	chr3:158859945-158859946	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7619294	chr3:158859946-158859947	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs577035551	chr3:158859968-158859969	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541324545	chr3:158860024-158860025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559354690	chr3:158860070-158860071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529758121	chr3:158860083-158860084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541945906	chr3:158860109-158860110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114948290	chr3:158860115-158860116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530644710	chr3:158860152-158860153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550075300	chr3:158860164-158860165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73027681	chr3:158860165-158860166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532654894	chr3:158860196-158860197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533125295	chr3:158860201-158860202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547724147	chr3:158860205-158860206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200413022	chr3:158860208-158860209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565731817	chr3:158860212-158860213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs67532460	chr3:158860213-158860214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116284063	chr3:158860216-158860217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570019693	chr3:158860219-158860220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537573629	chr3:158860220-158860221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558422484	chr3:158860221-158860222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371047280	chr3:158860222-158860223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201602884	chr3:158860223-158860224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74926780	chr3:158860224-158860225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201722131	chr3:158860226-158860227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541326038	chr3:158860238-158860239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553353063	chr3:158860239-158860240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7641814	chr3:158860250-158860251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575329327	chr3:158860277-158860278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541810989	chr3:158860284-158860285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542239423	chr3:158860293-158860294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563292386	chr3:158860320-158860321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575199684	chr3:158860335-158860336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560523364	chr3:158860346-158860347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545892002	chr3:158860352-158860353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58722005	chr3:158860377-158860378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs56395019	chr3:158860437-158860438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572523249	chr3:158860438-158860439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368366806	chr3:158860441-158860442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559654861	chr3:158860470-158860471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530343253	chr3:158860497-158860498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548152536	chr3:158860501-158860502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570037575	chr3:158860507-158860508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158858800-158864400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:158859800-158860000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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