Variant report

Variant	esv3310726
Chromosome Location	chr14:97389984-97390361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:97388464..97390562-chr14:97391698..97394069,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74078706	chr14:97389992-97389993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74862616	chr14:97390013-97390014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534076780	chr14:97390022-97390023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112350732	chr14:97390047-97390048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181515645	chr14:97390051-97390052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374202055	chr14:97390055-97390056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368707938	chr14:97390063-97390064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372887645	chr14:97390079-97390080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570746496	chr14:97390088-97390089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538065905	chr14:97390098-97390099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10138714	chr14:97390117-97390118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556453599	chr14:97390123-97390124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10149554	chr14:97390127-97390128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72478861	chr14:97390156-97390157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11374628	chr14:97390168-97390169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397776060	chr14:97390173-97390174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368364900	chr14:97390184-97390185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4905569	chr14:97390188-97390189	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575747385	chr14:97390222-97390223	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542972761	chr14:97390225-97390226	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572067468	chr14:97390261-97390262	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9989241	chr14:97390346-97390347	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
early-passage human iPS cells	21368824	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97368600-97391400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:97379400-97411800	Weak transcription	Primary T cells from cord blood	blood
3	chr14:97387000-97391400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:97387200-97395200	Weak transcription	Fetal Brain Male	brain
5	chr14:97388000-97391600	Weak transcription	K562	blood
6	chr14:97388400-97397400	Weak transcription	Dnd41	blood
7	chr14:97389400-97390200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:97389600-97391400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:97390200-97390400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:97390200-97390600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:97390200-97391200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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