Variant report

Variant	esv275351
Chromosome Location	chr14:63326784-63332083
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63327519..63330186-chr14:63330862..63333796,2	MCF-7	breast:
2	chr14:63327519..63330186-chr14:63330862..63333796,2	MCF-7	breast:
3	chr14:63316604..63319263-chr14:63330704..63332939,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546411048	chr14:63327414-63327415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11851853	chr14:63327434-63327435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559946665	chr14:63327463-63327464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150980521	chr14:63327489-63327490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542275462	chr14:63327501-63327502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1106722	chr14:63327546-63327547	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530911975	chr14:63327598-63327599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544324886	chr14:63327599-63327600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187343736	chr14:63327619-63327620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191349905	chr14:63327665-63327666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11851939	chr14:63327676-63327677	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs113731851	chr14:63327695-63327696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79771570	chr14:63327772-63327773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377225144	chr14:63327786-63327787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528289463	chr14:63327850-63327851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548253102	chr14:63327874-63327875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568093368	chr14:63327883-63327884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537047792	chr14:63327894-63327895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556724558	chr14:63327914-63327915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183928634	chr14:63327947-63327948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540092211	chr14:63327987-63327988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575090919	chr14:63327990-63327991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112072677	chr14:63327991-63327992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79363233	chr14:63328004-63328005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531590254	chr14:63328009-63328010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553717545	chr14:63328041-63328042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573458673	chr14:63328042-63328043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116890856	chr14:63328069-63328070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10143260	chr14:63328096-63328097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs575686669	chr14:63328100-63328101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113270723	chr14:63328162-63328163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564090159	chr14:63328188-63328189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533179835	chr14:63328204-63328205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201838095	chr14:63328272-63328273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545662000	chr14:63328273-63328274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561928394	chr14:63328276-63328277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187772520	chr14:63328312-63328313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531035444	chr14:63328318-63328319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375817067	chr14:63328319-63328320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11621432	chr14:63328337-63328338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111265844	chr14:63328352-63328353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370841057	chr14:63328355-63328356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368267105	chr14:63328356-63328357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77920521	chr14:63328371-63328372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193097664	chr14:63328391-63328392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3046137	chr14:63328393-63328394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374748800	chr14:63328430-63328431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77666900	chr14:63328441-63328442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530482388	chr14:63328473-63328474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550699514	chr14:63328475-63328476	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63327400-63328000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:63328000-63328400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr14:63328400-63328800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:63331200-63332600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr14:63331200-63332600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:63331400-63331800	Enhancers	Brain Germinal Matrix	brain
7	chr14:63331400-63332000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:63331400-63332000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:63331400-63332000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:63331400-63332000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:63331400-63332400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:63331400-63332600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr14:63331600-63332000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr14:63331600-63332000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:63331600-63332000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr14:63331600-63332000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:63331600-63332200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr14:63331600-63332400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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