Variant report

Variant	nsv515961
Chromosome Location	chr14:78390880-78392008
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	chr14:78391749..78395575-chr14:78398550..78402914,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2302944	chr14:78390880-78390881	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377083301	chr14:78390890-78390891	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs557132626	chr14:78390898-78390899	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs140287525	chr14:78390902-78390903	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs201208329	chr14:78390924-78390925	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369772492	chr14:78390956-78390957	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs561322145	chr14:78391052-78391053	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530359872	chr14:78391062-78391063	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111461936	chr14:78391202-78391203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150334202	chr14:78391204-78391205	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145332909	chr14:78391222-78391223	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551774142	chr14:78391227-78391228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10143234	chr14:78391274-78391275	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192861418	chr14:78391330-78391331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554887467	chr14:78391336-78391337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568120083	chr14:78391355-78391356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533992600	chr14:78391403-78391404	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28447210	chr14:78391429-78391430	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs573389170	chr14:78391437-78391438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539170354	chr14:78391550-78391551	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558970273	chr14:78391559-78391560	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149199456	chr14:78391674-78391675	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544570222	chr14:78391686-78391687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367895525	chr14:78391689-78391690	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3783955	chr14:78391709-78391710	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs3783954	chr14:78391715-78391716	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540845621	chr14:78391721-78391722	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559784704	chr14:78391726-78391727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143380040	chr14:78391794-78391795	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551898195	chr14:78391839-78391840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371042790	chr14:78391859-78391860	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369275760	chr14:78391874-78391875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111850036	chr14:78391887-78391888	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375536008	chr14:78391920-78391921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569487506	chr14:78391930-78391931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531344881	chr14:78391938-78391939	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551456731	chr14:78391939-78391940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548136842	chr14:78391970-78391971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185171643	chr14:78391988-78391989	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568364043	chr14:78391993-78391994	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371005073	chr14:78392008-78392009	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
2	chr14:78349200-78397200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:78349200-78407200	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:78352600-78398800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:78354800-78391600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:78355000-78391600	Weak transcription	Esophagus	oesophagus
7	chr14:78355600-78398000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:78356000-78393600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr14:78356000-78398600	Weak transcription	Fetal Intestine Large	intestine
10	chr14:78356800-78399600	Weak transcription	Thymus	Thymus
11	chr14:78357000-78398600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:78359200-78399600	Weak transcription	HSMMtube	muscle
13	chr14:78359200-78399800	Weak transcription	Primary B cells from cord blood	blood
14	chr14:78364000-78398800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:78366000-78393000	Weak transcription	Aorta	Aorta
16	chr14:78367400-78399200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:78369200-78392000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:78369400-78397400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:78369600-78394000	Weak transcription	Liver	Liver
20	chr14:78370000-78397600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:78372800-78399200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:78373000-78395200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr14:78374800-78391000	Weak transcription	Ovary	ovary
24	chr14:78375200-78391000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:78375200-78391600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:78375400-78400800	Weak transcription	NHEK	skin
27	chr14:78375600-78397800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr14:78376000-78392200	Weak transcription	Fetal Intestine Small	intestine
29	chr14:78377000-78392000	Weak transcription	Fetal Muscle Leg	muscle
30	chr14:78377000-78393200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:78377200-78398600	Weak transcription	Brain Substantia Nigra	brain
32	chr14:78377200-78399600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:78380000-78391000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:78381600-78399800	Weak transcription	Fetal Thymus	thymus
35	chr14:78384600-78392000	Weak transcription	Psoas Muscle	Psoas
36	chr14:78385000-78391000	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:78385000-78391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:78385000-78397800	Weak transcription	Left Ventricle	heart
39	chr14:78385000-78399600	Weak transcription	Brain Anterior Caudate	brain
40	chr14:78385000-78399600	Weak transcription	Dnd41	blood
41	chr14:78385000-78400000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:78385600-78391200	Weak transcription	Gastric	stomach
43	chr14:78387000-78397000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:78387200-78392400	Weak transcription	Adipose Nuclei	Adipose
45	chr14:78387400-78398000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:78387800-78391400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:78388600-78391400	Weak transcription	Fetal Stomach	stomach
48	chr14:78388800-78399400	Weak transcription	Brain Germinal Matrix	brain
49	chr14:78389000-78393400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:78389000-78398800	Weak transcription	Brain Inferior Temporal Lobe	brain

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