Variant report

Variant	esv3440034
Chromosome Location	chr14:85862269-85862619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560214777	chr14:85862272-85862273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34662716	chr14:85862281-85862282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56342415	chr14:85862282-85862283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200318688	chr14:85862285-85862286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201873732	chr14:85862286-85862287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113359592	chr14:85862302-85862303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73312259	chr14:85862303-85862304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112371683	chr14:85862337-85862338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35920182	chr14:85862344-85862345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200413289	chr14:85862355-85862356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200292141	chr14:85862368-85862369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569772315	chr14:85862370-85862371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374209083	chr14:85862371-85862372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575991871	chr14:85862382-85862383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56018248	chr14:85862386-85862387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199573865	chr14:85862387-85862388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200994050	chr14:85862391-85862392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537471904	chr14:85862402-85862403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150940338	chr14:85862411-85862412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11849467	chr14:85862412-85862413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375150765	chr14:85862431-85862432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186890648	chr14:85862454-85862455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140680130	chr14:85862501-85862502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111708140	chr14:85862502-85862503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191364348	chr14:85862528-85862529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74068341	chr14:85862531-85862532	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530399065	chr14:85862605-85862606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Bipolar disorder	19114987	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85860400-85862400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:85860400-85865400	Weak transcription	Fetal Lung	lung
3	chr14:85862400-85862800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:85862600-85863000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:85862600-85863400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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