Variant report

Variant	nsv460791
Chromosome Location	chr3:102089007-102100781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 421 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1435206	chr3:102089007-102089008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531433424	chr3:102089016-102089017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556371235	chr3:102089028-102089029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549933121	chr3:102089052-102089053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76294422	chr3:102089054-102089055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190537896	chr3:102089117-102089118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1435205	chr3:102089118-102089119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182321711	chr3:102089152-102089153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544750376	chr3:102089190-102089191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538791403	chr3:102089221-102089222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536556638	chr3:102089237-102089238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368696560	chr3:102089242-102089243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145592737	chr3:102089290-102089291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184640897	chr3:102089291-102089292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537126666	chr3:102089307-102089308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558815309	chr3:102089331-102089332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201146175	chr3:102089347-102089348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34204615	chr3:102089354-102089355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577280808	chr3:102089366-102089367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542981429	chr3:102089438-102089439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541036217	chr3:102089456-102089457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377233981	chr3:102089474-102089475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545674712	chr3:102089553-102089554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555392462	chr3:102089564-102089565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559699408	chr3:102089566-102089567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572362984	chr3:102089567-102089568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573913811	chr3:102089585-102089586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370144092	chr3:102089625-102089626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188954888	chr3:102089626-102089627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7639553	chr3:102089638-102089639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs369685368	chr3:102089655-102089656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549967119	chr3:102089737-102089738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564803118	chr3:102089815-102089816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147676158	chr3:102089855-102089856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547036969	chr3:102089863-102089864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565707742	chr3:102089870-102089871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181325878	chr3:102089899-102089900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371569854	chr3:102089905-102089906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562720058	chr3:102089939-102089940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548497423	chr3:102089974-102089975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142411014	chr3:102090031-102090032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146501662	chr3:102090062-102090063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559127034	chr3:102090119-102090120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185524620	chr3:102090158-102090159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535162472	chr3:102090221-102090222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114230618	chr3:102090225-102090226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574916100	chr3:102090241-102090242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191415220	chr3:102090256-102090257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181036390	chr3:102090267-102090268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201601988	chr3:102090288-102090289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102075600-102096600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:102093200-102093800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:102093200-102096600	Weak transcription	HMEC	breast
4	chr3:102093800-102096400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:102096400-102097200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:102096400-102097200	Enhancers	NHEK	skin
7	chr3:102096400-102098000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:102096600-102097600	Enhancers	HMEC	breast
9	chr3:102096600-102098000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:102097200-102097600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:102097200-102097600	Flanking Active TSS	NHEK	skin
12	chr3:102097600-102098600	Enhancers	NHEK	skin
13	chr3:102099400-102099600	Enhancers	Pancreatic Islets	Pancreatic Islet

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