Variant report

Variant	esv3462767
Chromosome Location	chr3:158898145-158900804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141302394	chr3:158898175-158898176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147849484	chr3:158898184-158898185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191316768	chr3:158898187-158898188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201261404	chr3:158898197-158898198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183414497	chr3:158898208-158898209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559296603	chr3:158898249-158898250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141389447	chr3:158898282-158898283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187714659	chr3:158898335-158898336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9832278	chr3:158898338-158898339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73877526	chr3:158898341-158898342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550059458	chr3:158898348-158898349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147013218	chr3:158898393-158898394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532110428	chr3:158898414-158898415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547404005	chr3:158898420-158898421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192159653	chr3:158898461-158898462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116607332	chr3:158898466-158898467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550922483	chr3:158898512-158898513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138082546	chr3:158898615-158898616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112799106	chr3:158898677-158898678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142192638	chr3:158898788-158898789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150109074	chr3:158898903-158898904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577934912	chr3:158898912-158898913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538642537	chr3:158898930-158898931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569130809	chr3:158898980-158898981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535909300	chr3:158899054-158899055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547893669	chr3:158899086-158899087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373757285	chr3:158899102-158899103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572446477	chr3:158899103-158899104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375589096	chr3:158899155-158899156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76613720	chr3:158899176-158899177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576257891	chr3:158899192-158899193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543657727	chr3:158899193-158899194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144416671	chr3:158899209-158899210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533601032	chr3:158899243-158899244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547073909	chr3:158899275-158899276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73877527	chr3:158899367-158899368	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529664742	chr3:158899376-158899377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548218645	chr3:158899377-158899378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569432199	chr3:158899403-158899404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538017210	chr3:158899507-158899508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73877528	chr3:158899539-158899540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs137888331	chr3:158899543-158899544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143025492	chr3:158899562-158899563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146159660	chr3:158899572-158899573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572366117	chr3:158899608-158899609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536253716	chr3:158899624-158899625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558807412	chr3:158899656-158899657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111736744	chr3:158899667-158899668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527595589	chr3:158899698-158899699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535832028	chr3:158899728-158899729	Weak transcription Enhancers	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158897200-158899400	Weak transcription	Stomach Mucosa	stomach
2	chr3:158899200-158899600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:158899400-158899800	Enhancers	Stomach Mucosa	stomach
4	chr3:158899400-158904600	Enhancers	Liver	Liver
5	chr3:158899600-158907400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:158899800-158905000	Weak transcription	Stomach Mucosa	stomach
7	chr3:158900800-158901000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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