Variant report

Variant	nsv519617
Chromosome Location	chr14:56620952-56624423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11624380	chr14:56620952-56620953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191639085	chr14:56620954-56620955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529151916	chr14:56621010-56621011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116048226	chr14:56621031-56621032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183790560	chr14:56621039-56621040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148349825	chr14:56621057-56621058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115979451	chr14:56621076-56621077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374545702	chr14:56621118-56621119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141225134	chr14:56621169-56621170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs8004311	chr14:56621197-56621198	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs75242145	chr14:56621233-56621234	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556151107	chr14:56621262-56621263	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571604420	chr14:56621263-56621264	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150734718	chr14:56621327-56621328	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554051277	chr14:56621329-56621330	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529528137	chr14:56621345-56621346	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572257426	chr14:56621361-56621362	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536871208	chr14:56621390-56621391	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs118044498	chr14:56621418-56621419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576511771	chr14:56621440-56621441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141798379	chr14:56621455-56621456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371972922	chr14:56621457-56621458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543452080	chr14:56621458-56621459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565322168	chr14:56621490-56621491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188059621	chr14:56621516-56621517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139040815	chr14:56621578-56621579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550775213	chr14:56621603-56621604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181985106	chr14:56621647-56621648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187455496	chr14:56621704-56621705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190262962	chr14:56621760-56621761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549194807	chr14:56621818-56621819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560798557	chr14:56621835-56621836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531479416	chr14:56621839-56621840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181881883	chr14:56621842-56621843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570974907	chr14:56621843-56621844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570867682	chr14:56621888-56621889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372557606	chr14:56621959-56621960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538249019	chr14:56621963-56621964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76094708	chr14:56621968-56621969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201383985	chr14:56621969-56621970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547653672	chr14:56622004-56622005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186588280	chr14:56622041-56622042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190417025	chr14:56622054-56622055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542692885	chr14:56622066-56622067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553414166	chr14:56622082-56622083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573532234	chr14:56622115-56622116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143390347	chr14:56622123-56622124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370452282	chr14:56622138-56622139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs242409	chr14:56622158-56622159	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs78540049	chr14:56622167-56622168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56615400-56626800	Weak transcription	Left Ventricle	heart
2	chr14:56615600-56621000	Weak transcription	Small Intestine	intestine
3	chr14:56615600-56639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:56615800-56623200	Weak transcription	Spleen	Spleen
5	chr14:56615800-56625800	Weak transcription	Lung	lung
6	chr14:56615800-56626800	Weak transcription	Stomach Mucosa	stomach
7	chr14:56616000-56625800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:56616200-56621000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:56616200-56621200	Weak transcription	Aorta	Aorta
10	chr14:56616200-56626000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:56616800-56640200	Weak transcription	Fetal Stomach	stomach
12	chr14:56617200-56627000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:56617600-56623000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:56617800-56623000	Weak transcription	Fetal Lung	lung
15	chr14:56618000-56629200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:56618200-56626400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:56618200-56627000	Weak transcription	Gastric	stomach
18	chr14:56618800-56621000	Weak transcription	Primary T cells from cord blood	blood
19	chr14:56618800-56626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:56619000-56621000	Weak transcription	Fetal Thymus	thymus
21	chr14:56619000-56621000	Weak transcription	Pancreas	Pancrea
22	chr14:56619000-56624200	Enhancers	Dnd41	blood
23	chr14:56619000-56625800	Weak transcription	Ovary	ovary
24	chr14:56619200-56623000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:56619400-56626400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:56620000-56626000	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:56620200-56621000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:56620200-56621000	Weak transcription	Thymus	Thymus
29	chr14:56620200-56623000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:56620200-56623200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:56620200-56623200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:56620400-56623000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:56620600-56621200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:56620600-56622600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:56620600-56622600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:56620600-56622800	Weak transcription	Osteobl	bone
37	chr14:56621000-56621200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr14:56621000-56621400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr14:56621000-56621400	Enhancers	Primary T cells from cord blood	blood
40	chr14:56621000-56621400	Enhancers	Fetal Thymus	thymus
41	chr14:56621000-56621400	Enhancers	Pancreas	Pancrea
42	chr14:56621000-56621400	Enhancers	Small Intestine	intestine
43	chr14:56621000-56621400	Enhancers	Thymus	Thymus
44	chr14:56621200-56621400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:56621200-56621400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:56621200-56621400	Enhancers	Aorta	Aorta
47	chr14:56621400-56625000	Weak transcription	Pancreas	Pancrea
48	chr14:56621400-56625800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:56621400-56625800	Weak transcription	Thymus	Thymus
50	chr14:56621400-56626400	Weak transcription	Aorta	Aorta

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