Variant report

Variant	esv3427556
Chromosome Location	chr14:70321168-70321661
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144479022	chr14:70321221-70321222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568784232	chr14:70321222-70321223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56176047	chr14:70321227-70321228	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547969199	chr14:70321228-70321229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183076767	chr14:70321236-70321237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74060480	chr14:70321248-70321249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528847642	chr14:70321299-70321300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188019403	chr14:70321303-70321304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570541439	chr14:70321308-70321309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78521368	chr14:70321311-70321312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556220772	chr14:70321342-70321343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148438501	chr14:70321466-70321467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542585646	chr14:70321567-70321568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142606235	chr14:70321584-70321585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193144561	chr14:70321586-70321587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565816230	chr14:70321589-70321590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577583011	chr14:70321609-70321610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546387982	chr14:70321618-70321619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117581356	chr14:70321619-70321620	Weak transcription Enhancers	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70316600-70321800	Weak transcription	Hela-S3	cervix
2	chr14:70317200-70325600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70318000-70323200	Enhancers	HepG2	liver
4	chr14:70319200-70323200	Enhancers	Brain Germinal Matrix	brain
5	chr14:70320200-70325400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:70320600-70321200	Weak transcription	Fetal Brain Male	brain
7	chr14:70320800-70323000	Weak transcription	Placenta	Placenta
8	chr14:70320800-70325600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70321000-70322000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:70321200-70321400	Enhancers	Fetal Brain Male	brain
11	chr14:70321400-70326200	Weak transcription	Fetal Brain Male	brain

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