Variant report

Variant	esv3410810
Chromosome Location	chr7:52913187-52915344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57391839	chr7:52913207-52913208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544421956	chr7:52913286-52913287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13227821	chr7:52913320-52913321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13226931	chr7:52913322-52913323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578061874	chr7:52913329-52913330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2912998	chr7:52913364-52913365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373703739	chr7:52913366-52913367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376709608	chr7:52913367-52913368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13227918	chr7:52913400-52913401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13227049	chr7:52913415-52913416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542953590	chr7:52913444-52913445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562657517	chr7:52913476-52913477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531454206	chr7:52913516-52913517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180942456	chr7:52913570-52913571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564865693	chr7:52913621-52913622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370638454	chr7:52913662-52913663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76716984	chr7:52913674-52913675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538340612	chr7:52913682-52913683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548264344	chr7:52913684-52913685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566935753	chr7:52913694-52913695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529501104	chr7:52913704-52913705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549412929	chr7:52913725-52913726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11766226	chr7:52913728-52913729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533655814	chr7:52913772-52913773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538094892	chr7:52913814-52913815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551801908	chr7:52913843-52913844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2965649	chr7:52913871-52913872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11767000	chr7:52913886-52913887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs534308941	chr7:52913889-52913890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554168730	chr7:52913891-52913892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569780433	chr7:52913907-52913908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574085643	chr7:52913919-52913920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536546658	chr7:52913920-52913921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574798870	chr7:52913927-52913928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556225674	chr7:52913946-52913947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576171934	chr7:52913964-52913965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2912999	chr7:52914016-52914017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564761925	chr7:52914032-52914033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79738452	chr7:52914050-52914051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11762831	chr7:52914078-52914079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs184014555	chr7:52914079-52914080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529685742	chr7:52914082-52914083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549642090	chr7:52914175-52914176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369671693	chr7:52914214-52914215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563072740	chr7:52914226-52914227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550125632	chr7:52914234-52914235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531912472	chr7:52914260-52914261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551654127	chr7:52914385-52914386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571880032	chr7:52914537-52914538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534238634	chr7:52914570-52914571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52911200-52915600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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