Variant report

Variant	esv3367756
Chromosome Location	chr14:63265649-63267697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534423408	chr14:63265666-63265667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558356734	chr14:63265726-63265727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554327842	chr14:63265731-63265732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527511751	chr14:63265792-63265793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181015763	chr14:63265797-63265798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578113334	chr14:63265819-63265820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577335353	chr14:63265844-63265845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187104516	chr14:63265846-63265847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2065632	chr14:63265898-63265899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs192436518	chr14:63265907-63265908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562857849	chr14:63265918-63265919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111797369	chr14:63265919-63265920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183305325	chr14:63265938-63265939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531652244	chr14:63265939-63265940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550827853	chr14:63265942-63265943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564255527	chr14:63265982-63265983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540766575	chr14:63265986-63265987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188750492	chr14:63265996-63265997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148449909	chr14:63266002-63266003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142628714	chr14:63266021-63266022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528915436	chr14:63266038-63266039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561278257	chr14:63266065-63266066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548716155	chr14:63266071-63266072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568814035	chr14:63266092-63266093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372067340	chr14:63266163-63266164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557751896	chr14:63266223-63266224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112986708	chr14:63266252-63266253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182712027	chr14:63266260-63266261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375399481	chr14:63266266-63266267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373770586	chr14:63266286-63266287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367611263	chr14:63266287-63266288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5809173	chr14:63266292-63266293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147157424	chr14:63266312-63266313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543137504	chr14:63266328-63266329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7492412	chr14:63266381-63266382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187329284	chr14:63266398-63266399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117560827	chr14:63266406-63266407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191424419	chr14:63266442-63266443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4357838	chr14:63266444-63266445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369324272	chr14:63266445-63266446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs994735	chr14:63266446-63266447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs67691300	chr14:63266448-63266449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12880117	chr14:63266507-63266508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs5809176	chr14:63266555-63266556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3045401	chr14:63266556-63266557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12880303	chr14:63266616-63266617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116371260	chr14:63266633-63266634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545039018	chr14:63266672-63266673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186642059	chr14:63266675-63266676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2355735	chr14:63266685-63266686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63255600-63274400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:63266600-63267600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:63267200-63267800	Enhancers	A549	lung

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