Variant report

Variant	nsv85374
Chromosome Location	chr14:68796718-68798084
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68796742..68797604-chr14:68925516..68926046,2	MCF-7	breast:
2	chr14:68785289..68787914-chr14:68794616..68796810,2	MCF-7	breast:
3	chr14:68797384..68800129-chr14:68809250..68811315,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7147852	chr14:68796799-68796800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545988531	chr14:68796838-68796839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112478042	chr14:68796859-68796860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141073156	chr14:68796907-68796908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2145423	chr14:68796930-68796931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs17828120	chr14:68796943-68796944	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562045393	chr14:68796966-68796967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190239199	chr14:68796988-68796989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2145422	chr14:68797169-68797170	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs143181125	chr14:68797189-68797190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539989151	chr14:68797197-68797198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561237184	chr14:68797260-68797261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528331841	chr14:68797551-68797552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181375610	chr14:68797636-68797637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186679168	chr14:68797662-68797663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191927850	chr14:68797743-68797744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546987690	chr14:68797815-68797816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571278249	chr14:68797818-68797819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555783037	chr14:68797819-68797820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148285387	chr14:68797852-68797853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10136827	chr14:68797871-68797872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569157160	chr14:68797881-68797882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552083865	chr14:68797898-68797899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10136837	chr14:68797908-68797909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545951216	chr14:68797915-68797916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138362292	chr14:68797946-68797947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576513826	chr14:68798016-68798017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56899370	chr14:68798027-68798028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562067443	chr14:68798051-68798052	Weak transcription Enhancers	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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68785600-68812400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:68786600-68799000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:68786800-68798800	Weak transcription	Brain Anterior Caudate	brain
5	chr14:68787400-68798400	Weak transcription	Fetal Stomach	stomach
6	chr14:68788200-68807000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:68789600-68810400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:68790800-68799200	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:68792600-68798200	Weak transcription	Fetal Intestine Small	intestine
10	chr14:68793800-68798200	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:68794400-68797400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr14:68794400-68798000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:68795000-68798200	Weak transcription	Primary B cells from cord blood	blood
14	chr14:68795400-68799200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:68796400-68798200	Weak transcription	GM12878-XiMat	blood
16	chr14:68796600-68799800	Enhancers	Fetal Lung	lung
17	chr14:68796800-68800200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr14:68797400-68798400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:68798000-68798800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr14:68798000-68799400	Enhancers	Fetal Kidney	kidney

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