Variant report

Variant	nsv525928
Chromosome Location	chr14:68904059-68905974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68903088..68905318-chr14:68921062..68923121,2	MCF-7	breast:
2	chr14:68905969..68908035-chr14:68908553..68911248,2	MCF-7	breast:
3	chr14:68902379..68904838-chr14:68925274..68927509,2	MCF-7	breast:
4	chr14:68905083..68907037-chr14:69260254..69261776,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1570107	chr14:68904059-68904060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546142801	chr14:68904073-68904074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538320913	chr14:68904097-68904098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187095346	chr14:68904106-68904107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11158742	chr14:68904149-68904150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538040241	chr14:68904156-68904157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550116527	chr14:68904160-68904161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148590884	chr14:68904166-68904167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11625077	chr14:68904312-68904313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548283968	chr14:68904335-68904336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35759202	chr14:68904372-68904373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566540404	chr14:68904416-68904417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75039299	chr14:68904436-68904437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558482533	chr14:68904510-68904511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111690817	chr14:68904530-68904531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570664811	chr14:68904544-68904545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538136648	chr14:68904579-68904580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191919054	chr14:68904590-68904591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184120093	chr14:68904619-68904620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73278308	chr14:68904669-68904670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35526918	chr14:68904690-68904691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543106046	chr14:68904723-68904724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35488277	chr14:68904747-68904748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147774790	chr14:68904748-68904749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561179673	chr14:68904758-68904759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569430964	chr14:68904789-68904790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376046787	chr14:68904861-68904862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112296473	chr14:68904863-68904864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145129960	chr14:68904885-68904886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564464734	chr14:68904896-68904897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531951631	chr14:68904897-68904898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538444684	chr14:68904908-68904909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150965297	chr14:68904911-68904912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140821231	chr14:68904943-68904944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185852073	chr14:68904989-68904990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558455892	chr14:68905023-68905024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150144732	chr14:68905068-68905069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79653642	chr14:68905133-68905134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs527340175	chr14:68905141-68905142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75514337	chr14:68905185-68905186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570427504	chr14:68905200-68905201	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537781408	chr14:68905201-68905202	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556026082	chr14:68905225-68905226	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114535915	chr14:68905235-68905236	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs75761400	chr14:68905239-68905240	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189726969	chr14:68905258-68905259	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572454855	chr14:68905347-68905348	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs138629294	chr14:68905386-68905387	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532835499	chr14:68905393-68905394	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571991768	chr14:68905411-68905412	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68895200-68914400	Weak transcription	A549	lung
2	chr14:68901400-68908600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr14:68901800-68907400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:68903000-68911200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:68903600-68907200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:68904000-68910000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:68905200-68906800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:68905600-68906800	Enhancers	Fetal Muscle Leg	muscle
9	chr14:68905800-68906000	Enhancers	Brain Cingulate Gyrus	brain
10	chr14:68905800-68906200	Enhancers	Spleen	Spleen

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