Variant report

Variant	esv2644833
Chromosome Location	chr3:159240023-159241414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:159236194..159237893-chr3:159238621..159241336,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548479904	chr3:159240032-159240033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116074252	chr3:159240039-159240040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74751583	chr3:159240151-159240152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559247366	chr3:159240156-159240157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577318474	chr3:159240195-159240196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534698826	chr3:159240200-159240201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148619642	chr3:159240227-159240228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574813249	chr3:159240314-159240315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183211664	chr3:159240347-159240348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61794722	chr3:159240425-159240426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575065230	chr3:159240429-159240430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142053905	chr3:159240430-159240431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549758047	chr3:159240481-159240482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150909371	chr3:159240500-159240501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34512311	chr3:159240508-159240509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548865170	chr3:159240518-159240519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528124664	chr3:159240526-159240527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187167595	chr3:159240589-159240590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561855797	chr3:159240590-159240591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191502732	chr3:159240609-159240610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550623423	chr3:159240635-159240636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570268205	chr3:159240636-159240637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183419084	chr3:159240644-159240645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10596671	chr3:159240648-159240649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59104928	chr3:159240661-159240662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552944303	chr3:159240669-159240670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs519042	chr3:159240676-159240677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571157868	chr3:159240678-159240679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34173495	chr3:159240731-159240732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188043213	chr3:159240764-159240765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527922044	chr3:159240774-159240775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11927927	chr3:159240788-159240789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191683442	chr3:159240791-159240792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77260808	chr3:159240813-159240814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113995603	chr3:159240820-159240821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545592578	chr3:159240868-159240869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570261710	chr3:159240939-159240940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146594818	chr3:159241016-159241017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546674503	chr3:159241112-159241113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573041107	chr3:159241150-159241151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553995475	chr3:159241215-159241216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9824293	chr3:159241272-159241273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs79442992	chr3:159241274-159241275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528834529	chr3:159241318-159241319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544331695	chr3:159241334-159241335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139106052	chr3:159241363-159241364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562560777	chr3:159241364-159241365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73874542	chr3:159241398-159241399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs182313033	chr3:159241411-159241412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159239400-159246000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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