Variant report

Variant	esv3433573
Chromosome Location	chr14:37258251-37260149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548938025	chr14:37258254-37258255	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs182550028	chr14:37258344-37258345	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs367577085	chr14:37258349-37258350	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536907172	chr14:37258353-37258354	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576082330	chr14:37258381-37258382	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs371748479	chr14:37258400-37258401	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs142681839	chr14:37258420-37258421	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs539285287	chr14:37258425-37258426	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs553018719	chr14:37258484-37258485	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs572943766	chr14:37258533-37258534	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs115156906	chr14:37258562-37258563	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs41434649	chr14:37258674-37258675	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575349649	chr14:37258675-37258676	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2774036	chr14:37258704-37258705	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533522722	chr14:37258738-37258739	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs2764958	chr14:37258745-37258746	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs192071783	chr14:37258812-37258813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533553159	chr14:37258846-37258847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76915102	chr14:37258847-37258848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs848689	chr14:37258880-37258881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs59411216	chr14:37258908-37258909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56201025	chr14:37258916-37258917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58842270	chr14:37258928-37258929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56881259	chr14:37258932-37258933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61128808	chr14:37258935-37258936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs848107	chr14:37258943-37258944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61186601	chr14:37258952-37258953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2564854	chr14:37258955-37258956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59950052	chr14:37258960-37258961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57537004	chr14:37258974-37258975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28405559	chr14:37258979-37258980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs57832642	chr14:37258982-37258983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56389853	chr14:37258998-37258999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193283791	chr14:37259003-37259004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55687253	chr14:37259006-37259007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376710111	chr14:37259013-37259014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58065368	chr14:37259015-37259016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57874966	chr14:37259018-37259019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374257454	chr14:37259020-37259021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529301470	chr14:37259021-37259022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59229895	chr14:37259023-37259024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57881013	chr14:37259030-37259031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58246288	chr14:37259044-37259045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61599034	chr14:37259045-37259046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57126552	chr14:37259053-37259054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57519778	chr14:37259062-37259063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58401054	chr14:37259064-37259065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550842479	chr14:37259069-37259070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs848106	chr14:37259071-37259072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs549075217	chr14:37259113-37259114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Cancer	20164919	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37258000-37258800	Active TSS	Fetal Thymus	thymus
2	chr14:37258000-37260800	Weak transcription	Fetal Kidney	kidney

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