Variant report

Variant	esv3391571
Chromosome Location	chr14:65360199-65364497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65360076..65361766-chr14:65362287..65363875,2	MCF-7	breast:
2	chr14:65360076..65361766-chr14:65362287..65363875,2	MCF-7	breast:
3	chr14:65358336..65361161-chr14:65365213..65366947,2	K562	blood:
4	chr14:65264347..65266634-chr14:65358841..65360422,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549552454	chr14:65360222-65360223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565008689	chr14:65360256-65360257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568900520	chr14:65360275-65360276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140503708	chr14:65360299-65360300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1957422	chr14:65360358-65360359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs377722266	chr14:65360393-65360394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369422389	chr14:65360395-65360396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370147318	chr14:65360397-65360398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534165076	chr14:65360405-65360406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367816962	chr14:65360576-65360577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377512774	chr14:65360610-65360611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547470558	chr14:65360854-65360855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370984114	chr14:65361040-65361041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553856810	chr14:65361141-65361142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577458617	chr14:65361168-65361169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374010323	chr14:65361178-65361179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377062948	chr14:65361212-65361213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542741699	chr14:65361267-65361268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566914704	chr14:65361292-65361293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371499811	chr14:65362416-65362417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373772184	chr14:65362421-65362422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367658286	chr14:65362685-65362686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370057484	chr14:65362688-65362689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374019957	chr14:65362705-65362706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373150221	chr14:65362733-65362734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367889967	chr14:65362936-65362937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372038539	chr14:65363006-65363007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562627823	chr14:65363083-65363084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544470031	chr14:65363084-65363085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111798336	chr14:65363147-65363148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113593766	chr14:65363372-65363373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28579474	chr14:65363374-65363375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57105761	chr14:65363520-65363521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200793092	chr14:65363539-65363540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201907679	chr14:65363540-65363541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553661466	chr14:65363599-65363600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12881353	chr14:65363615-65363616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs114016924	chr14:65363642-65363643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570438825	chr14:65363716-65363717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562686349	chr14:65363730-65363731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186882811	chr14:65363795-65363796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1957421	chr14:65363804-65363805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs191784983	chr14:65363810-65363811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73279853	chr14:65363824-65363825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs74329761	chr14:65363855-65363856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150071318	chr14:65363865-65363866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533911842	chr14:65363896-65363897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183565811	chr14:65363928-65363929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200551435	chr14:65363933-65363934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143480326	chr14:65363934-65363935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65358600-65368000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:65364200-65364800	Enhancers	Thymus	Thymus
3	chr14:65364400-65364800	Bivalent Enhancer	Fetal Thymus	thymus

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