Variant report

Variant	esv3445726
Chromosome Location	chr14:85681978-85682350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189386166	chr14:85681980-85681981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560086515	chr14:85681983-85681984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386779498	chr14:85682017-85682018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1767406	chr14:85682030-85682031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181488165	chr14:85682031-85682032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530545038	chr14:85682059-85682060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145941801	chr14:85682067-85682068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563962783	chr14:85682076-85682077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184176547	chr14:85682100-85682101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57907274	chr14:85682108-85682109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541846298	chr14:85682111-85682112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560455088	chr14:85682131-85682132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535328902	chr14:85682134-85682135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188232066	chr14:85682167-85682168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180982103	chr14:85682213-85682214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186402685	chr14:85682223-85682224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376952079	chr14:85682225-85682226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9972156	chr14:85682228-85682229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs546252803	chr14:85682248-85682249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151335659	chr14:85682287-85682288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577359418	chr14:85682289-85682290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112259222	chr14:85682297-85682298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548152208	chr14:85682328-85682329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191060545	chr14:85682341-85682342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85681600-85688800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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