Variant report

Variant	esv3411793
Chromosome Location	chr14:96934270-96934942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544011734	chr14:96934312-96934313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551723436	chr14:96934322-96934323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139470885	chr14:96934327-96934328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185225097	chr14:96934332-96934333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559432003	chr14:96934403-96934404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139123851	chr14:96934409-96934410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35563628	chr14:96934410-96934411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71103531	chr14:96934433-96934434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112726152	chr14:96934442-96934443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574069623	chr14:96934456-96934457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11624079	chr14:96934461-96934462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563395001	chr14:96934548-96934549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71103532	chr14:96934551-96934552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570223842	chr14:96934552-96934553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115688991	chr14:96934610-96934611	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549169933	chr14:96934615-96934616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs67009492	chr14:96934656-96934657	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190827589	chr14:96934696-96934697	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528431918	chr14:96934702-96934703	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs547374883	chr14:96934732-96934733	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs565768397	chr14:96934758-96934759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs149237539	chr14:96934789-96934790	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557800382	chr14:96934793-96934794	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs570145984	chr14:96934840-96934841	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs537203246	chr14:96934882-96934883	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs555976494	chr14:96934895-96934896	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs373720153	chr14:96934900-96934901	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs369513133	chr14:96934902-96934903	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs60811930	chr14:96934925-96934926	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552983223	chr14:96934926-96934927	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Glioblastoma	21080181	CNVD
Cancer	20164920	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
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Breast cancer	21509527	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	17426248	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96917200-96954800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:96929000-96934600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr14:96929400-96946200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:96929600-96935000	Weak transcription	Stomach Mucosa	stomach
5	chr14:96929600-96941600	Weak transcription	Pancreas	Pancrea
6	chr14:96932000-96935600	Enhancers	Fetal Intestine Large	intestine
7	chr14:96932800-96934600	Enhancers	HepG2	liver
8	chr14:96932800-96935800	Enhancers	Fetal Intestine Small	intestine
9	chr14:96932800-96936000	Enhancers	Liver	Liver
10	chr14:96934200-96935800	Enhancers	Placenta	Placenta
11	chr14:96934600-96935600	Enhancers	Duodenum Mucosa	Duodenum
12	chr14:96934600-96935600	Flanking Active TSS	HepG2	liver

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