Variant report

Variant	nsv826965
Chromosome Location	chr14:64360774-64366612
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	chr14:64319630..64322805-chr14:64362843..64364773,3	MCF-7	breast:
2	chr14:64319794..64321904-chr14:64361235..64363695,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	chromatin interactions

Extended variants
information (count: 207 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368538684	chr14:64360795-64360796	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs185517661	chr14:64360867-64360868	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs572731127	chr14:64360876-64360877	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373290399	chr14:64360959-64360960	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs142510885	chr14:64360984-64360985	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs560982018	chr14:64361054-64361055	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs573114361	chr14:64361077-64361078	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375402678	chr14:64361187-64361188	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs543548106	chr14:64361225-64361226	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs563345740	chr14:64361230-64361231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs190389091	chr14:64361248-64361249	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs372213525	chr14:64361262-64361263	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532364045	chr14:64361286-64361287	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs75894588	chr14:64361292-64361293	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs533983855	chr14:64361303-64361304	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs535831478	chr14:64361308-64361309	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs144803175	chr14:64361319-64361320	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs555402965	chr14:64361324-64361325	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181851158	chr14:64361448-64361449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548178715	chr14:64361476-64361477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567331161	chr14:64361489-64361490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1000904	chr14:64361496-64361497	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs186937523	chr14:64361516-64361517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569778679	chr14:64361532-64361533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554378451	chr14:64361662-64361663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559154943	chr14:64361681-64361682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34694059	chr14:64361743-64361744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147939668	chr14:64361763-64361764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541722868	chr14:64361810-64361811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112926329	chr14:64361828-64361829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554920770	chr14:64361832-64361833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113071474	chr14:64361835-64361836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79438630	chr14:64361840-64361841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199954402	chr14:64361841-64361842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543408237	chr14:64361908-64361909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190180791	chr14:64361996-64361997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532275232	chr14:64361997-64361998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113679195	chr14:64362000-64362001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs60261435	chr14:64362001-64362002	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544018527	chr14:64362014-64362015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559538727	chr14:64362029-64362030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528232044	chr14:64362106-64362107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144873377	chr14:64362140-64362141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535971564	chr14:64362192-64362193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548467532	chr14:64362263-64362264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397853436	chr14:64362309-64362310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567982802	chr14:64362318-64362319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34613830	chr14:64362319-64362320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201410973	chr14:64362343-64362344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367832518	chr14:64362353-64362354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64336800-64362800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:64337000-64365200	Weak transcription	Fetal Thymus	thymus
3	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
4	chr14:64339400-64366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:64341400-64366800	Weak transcription	Primary T cells from cord blood	blood
6	chr14:64342800-64368400	Weak transcription	Esophagus	oesophagus
7	chr14:64349400-64366600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:64349600-64366000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:64352800-64366800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:64355200-64362000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:64357000-64363600	Enhancers	Liver	Liver
12	chr14:64357200-64360800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:64357200-64361600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:64357200-64362400	Enhancers	Fetal Stomach	stomach
15	chr14:64357800-64364800	Weak transcription	Fetal Intestine Large	intestine
16	chr14:64357800-64366600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:64358000-64361200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr14:64358000-64362600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:64358000-64364400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:64358200-64375800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:64358200-64377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:64358400-64361400	Enhancers	Left Ventricle	heart
23	chr14:64358400-64365400	Enhancers	Adipose Nuclei	Adipose
24	chr14:64358400-64366000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:64358600-64361200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:64358600-64363000	Weak transcription	Fetal Intestine Small	intestine
27	chr14:64358600-64364400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:64358600-64365800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:64358800-64361000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr14:64358800-64361000	Enhancers	NHEK	skin
31	chr14:64358800-64361200	Enhancers	HUVEC	blood vessel
32	chr14:64358800-64363000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:64358800-64377600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:64359000-64360800	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:64359000-64361400	Enhancers	Brain Germinal Matrix	brain
36	chr14:64359000-64361400	Enhancers	Osteobl	bone
37	chr14:64359000-64363000	Weak transcription	Small Intestine	intestine
38	chr14:64359000-64366400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:64359000-64367800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:64359200-64362800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr14:64359200-64363000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:64359400-64361200	Enhancers	Lung	lung
43	chr14:64359400-64361400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:64359400-64361400	Enhancers	Fetal Muscle Trunk	muscle
45	chr14:64359400-64361400	Enhancers	Fetal Muscle Leg	muscle
46	chr14:64359400-64362600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:64359800-64361200	Enhancers	NHDF-Ad	bronchial
48	chr14:64359800-64361400	Enhancers	Fetal Heart	heart
49	chr14:64359800-64361800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:64359800-64364200	Weak transcription	Dnd41	blood

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