Variant report

Variant	esv3326231
Chromosome Location	chr14:45857827-45860375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576833144	chr14:45857854-45857855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs185450781	chr14:45857857-45857858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190553662	chr14:45857871-45857872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs12587908	chr14:45857887-45857888	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs542451523	chr14:45857904-45857905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560519033	chr14:45857971-45857972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs549795175	chr14:45857981-45857982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs112272919	chr14:45858021-45858022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs374077013	chr14:45858032-45858033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs56191266	chr14:45858033-45858034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs146374533	chr14:45858051-45858052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs181862242	chr14:45858073-45858074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs28503188	chr14:45858083-45858084	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549781902	chr14:45858093-45858094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs568379923	chr14:45858181-45858182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs139597369	chr14:45858194-45858195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553979631	chr14:45858195-45858196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs565739023	chr14:45858200-45858201	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539204017	chr14:45858210-45858211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537151086	chr14:45858212-45858213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558639111	chr14:45858213-45858214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576896926	chr14:45858246-45858247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544225297	chr14:45858250-45858251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111645087	chr14:45858287-45858288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112173477	chr14:45858290-45858291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112208659	chr14:45858313-45858314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111261256	chr14:45858359-45858360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368871729	chr14:45858402-45858403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530156077	chr14:45858472-45858473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371796256	chr14:45858474-45858475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113212692	chr14:45858654-45858655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1314544	chr14:45858682-45858683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1314543	chr14:45858727-45858728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1314586	chr14:45858745-45858746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372201633	chr14:45858798-45858799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376078450	chr14:45858825-45858826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369749315	chr14:45858911-45858912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373504588	chr14:45858985-45858986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1269940	chr14:45859024-45859025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1271503	chr14:45859186-45859187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559064613	chr14:45859251-45859252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542164023	chr14:45859296-45859297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377736246	chr14:45859345-45859346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369810954	chr14:45859378-45859379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560799629	chr14:45859404-45859405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7145548	chr14:45859553-45859554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377445043	chr14:45859634-45859635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527904170	chr14:45859644-45859645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117993179	chr14:45859660-45859661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185831162	chr14:45859664-45859665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45857400-45858200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:45858200-45860200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:45860200-45863000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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