Variant report

Variant	esv3406404
Chromosome Location	chr14:81338702-81339139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539242082	chr14:81338747-81338748	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554370897	chr14:81338750-81338751	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190515454	chr14:81338758-81338759	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141352185	chr14:81338772-81338773	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193110056	chr14:81338786-81338787	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35021590	chr14:81338822-81338823	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34336276	chr14:81338842-81338843	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146993517	chr14:81338844-81338845	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138092411	chr14:81338846-81338847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35589247	chr14:81338878-81338879	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369914330	chr14:81338883-81338884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532830357	chr14:81338895-81338896	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565291971	chr14:81338916-81338917	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532851553	chr14:81338920-81338921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368996433	chr14:81338936-81338937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527466219	chr14:81338962-81338963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549047644	chr14:81339030-81339031	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs550963009	chr14:81339077-81339078	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs2371419	chr14:81339103-81339104	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs112641813	chr14:81339122-81339123	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568861099	chr14:81339124-81339125	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531610579	chr14:81339131-81339132	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550156860	chr14:81339135-81339136	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81291800-81344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:81316600-81338800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
4	chr14:81326600-81339800	Weak transcription	Fetal Thymus	thymus
5	chr14:81329200-81359400	Weak transcription	HSMM	muscle
6	chr14:81330400-81350600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:81331200-81344800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:81332600-81344400	Weak transcription	Ovary	ovary
9	chr14:81332600-81345800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:81332800-81344000	Weak transcription	Thymus	Thymus
11	chr14:81333000-81344600	Weak transcription	Aorta	Aorta
12	chr14:81334800-81344400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:81335000-81344200	Weak transcription	A549	lung
14	chr14:81336000-81344400	Weak transcription	NHEK	skin
15	chr14:81336200-81342200	Strong transcription	Dnd41	blood
16	chr14:81336600-81358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:81337200-81338800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr14:81337200-81344200	Weak transcription	Primary B cells from cord blood	blood
19	chr14:81337200-81357400	Weak transcription	Primary T cells from cord blood	blood
20	chr14:81337800-81338800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:81337800-81348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:81338000-81340200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:81338000-81344800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:81338000-81346200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:81338200-81348000	Weak transcription	Liver	Liver
26	chr14:81338400-81350600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:81338600-81340000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:81338800-81339400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr14:81338800-81340800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:81338800-81341400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr14:81338800-81347600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:81338800-81353800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr14:81339000-81339200	Active TSS	HSMMtube	muscle
34	chr14:81339000-81339600	Enhancers	NHLF	lung

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