Variant report

Variant	esv3419239
Chromosome Location	chr3:102801662-102803760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4461432	chr3:102801662-102801663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146208521	chr3:102801700-102801701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566306644	chr3:102801721-102801722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139014030	chr3:102801738-102801739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113700277	chr3:102801748-102801749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181300161	chr3:102801754-102801755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536745672	chr3:102801799-102801800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140463777	chr3:102801874-102801875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9842988	chr3:102801933-102801934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554956531	chr3:102801936-102801937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573370731	chr3:102801963-102801964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543878357	chr3:102801964-102801965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562647056	chr3:102801965-102801966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185370485	chr3:102801968-102801969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372134923	chr3:102801976-102801977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374100304	chr3:102801987-102801988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150427024	chr3:102801990-102801991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9823765	chr3:102801998-102801999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs527601611	chr3:102802009-102802010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9823772	chr3:102802016-102802017	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546989197	chr3:102802029-102802030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562041595	chr3:102802031-102802032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556758930	chr3:102802032-102802033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529340335	chr3:102802037-102802038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550787393	chr3:102802046-102802047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578158112	chr3:102802081-102802082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112937891	chr3:102802102-102802103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372659304	chr3:102802107-102802108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376913294	chr3:102802113-102802114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551959071	chr3:102802118-102802119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189909590	chr3:102802143-102802144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7430376	chr3:102802148-102802149	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112195307	chr3:102802168-102802169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564495401	chr3:102802172-102802173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573295065	chr3:102802180-102802181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527288426	chr3:102802209-102802210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146400775	chr3:102802213-102802214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555941345	chr3:102802219-102802220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115380877	chr3:102802246-102802247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527675516	chr3:102802250-102802251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116684760	chr3:102802251-102802252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540549210	chr3:102802284-102802285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13098384	chr3:102802402-102802403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572298965	chr3:102802468-102802469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377379098	chr3:102802499-102802500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28424149	chr3:102802510-102802511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28708689	chr3:102802516-102802517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376670235	chr3:102802521-102802522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28372497	chr3:102802523-102802524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56918092	chr3:102802526-102802527	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
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Renal cell carcinoma	18765545	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102799400-102802800	Weak transcription	Fetal Intestine Large	intestine
2	chr3:102799400-102802800	Weak transcription	Fetal Intestine Small	intestine
3	chr3:102801000-102802000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:102802000-102802200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:102802800-102805400	Enhancers	Fetal Intestine Large	intestine
6	chr3:102802800-102805400	Enhancers	Fetal Intestine Small	intestine
7	chr3:102803400-102805600	Enhancers	Fetal Kidney	kidney

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