Variant report

Variant	esv3353160
Chromosome Location	chr14:63273142-63277728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540706640	chr14:63273157-63273158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1844509	chr14:63273158-63273159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574195129	chr14:63273247-63273248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141368714	chr14:63273287-63273288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145043567	chr14:63273288-63273289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376998697	chr14:63273292-63273293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545711473	chr14:63273302-63273303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4386055	chr14:63273325-63273326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572659062	chr14:63273379-63273380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145773177	chr14:63273383-63273384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4441171	chr14:63273449-63273450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377073462	chr14:63273466-63273467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566196168	chr14:63273540-63273541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529005762	chr14:63273564-63273565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548660263	chr14:63273571-63273572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111856685	chr14:63273580-63273581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538152129	chr14:63273590-63273591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558515851	chr14:63273614-63273615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571851530	chr14:63273627-63273628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534354209	chr14:63273687-63273688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184007356	chr14:63273720-63273721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574133833	chr14:63273742-63273743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536763810	chr14:63273757-63273758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534715136	chr14:63273764-63273765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556276719	chr14:63273767-63273768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7493846	chr14:63273789-63273790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12433281	chr14:63273822-63273823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544157405	chr14:63273828-63273829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564075864	chr14:63273836-63273837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187940026	chr14:63273840-63273841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146243184	chr14:63273853-63273854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191996838	chr14:63273870-63273871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74704114	chr14:63273923-63273924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375709916	chr14:63273945-63273946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370372954	chr14:63273974-63273975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528971221	chr14:63274051-63274052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549106837	chr14:63274095-63274096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138810848	chr14:63274145-63274146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531368613	chr14:63274152-63274153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11847525	chr14:63274180-63274181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs73273199	chr14:63274436-63274437	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs117661597	chr14:63274437-63274438	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547972006	chr14:63274465-63274466	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567891826	chr14:63274469-63274470	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150737085	chr14:63274481-63274482	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556648184	chr14:63274539-63274540	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184453404	chr14:63274540-63274541	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538991310	chr14:63274555-63274556	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117923756	chr14:63274567-63274568	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577469617	chr14:63274570-63274571	Strong transcription	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:4 , 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	chr14:63274400-63275000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:63274600-63275000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr14:63275000-63278400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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