Variant report

Variant	esv3339352
Chromosome Location	chr3:103397812-103398960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142831449	chr3:103397839-103397840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549035242	chr3:103397852-103397853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181766323	chr3:103397877-103397878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185897323	chr3:103397878-103397879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546035786	chr3:103397914-103397915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12488655	chr3:103397921-103397922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145144049	chr3:103397935-103397936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569224996	chr3:103397944-103397945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539947153	chr3:103398017-103398018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372880763	chr3:103398058-103398059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558246064	chr3:103398075-103398076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12495365	chr3:103398092-103398093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs376210999	chr3:103398098-103398099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368212379	chr3:103398099-103398100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571218252	chr3:103398113-103398114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60284807	chr3:103398114-103398115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370602458	chr3:103398117-103398118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115849221	chr3:103398119-103398120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12485767	chr3:103398126-103398127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200770104	chr3:103398138-103398139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370354388	chr3:103398177-103398178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553574824	chr3:103398202-103398203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12488730	chr3:103398238-103398239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12486517	chr3:103398245-103398246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143686313	chr3:103398263-103398264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554636489	chr3:103398278-103398279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138892236	chr3:103398309-103398310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201620595	chr3:103398316-103398317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534384616	chr3:103398319-103398320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115430700	chr3:103398324-103398325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373198689	chr3:103398357-103398358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76082805	chr3:103398390-103398391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150990665	chr3:103398395-103398396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139247210	chr3:103398397-103398398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60321150	chr3:103398398-103398399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72960190	chr3:103398440-103398441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538851593	chr3:103398480-103398481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183439557	chr3:103398500-103398501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116558406	chr3:103398612-103398613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150348770	chr3:103398636-103398637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10663059	chr3:103398653-103398654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398040275	chr3:103398657-103398658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527526406	chr3:103398671-103398672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549151723	chr3:103398691-103398692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561073044	chr3:103398709-103398710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572381471	chr3:103398734-103398735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187952652	chr3:103398785-103398786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536591517	chr3:103398811-103398812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111922677	chr3:103398858-103398859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191175466	chr3:103398899-103398900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Developmental delay	22180640	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103393800-103409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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