Variant report

Variant	esv3397665
Chromosome Location	chr14:78466240-78474140
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	chr14:78223843..78225909-chr14:78468735..78470823,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190869605	chr14:78471015-78471016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183044341	chr14:78471019-78471020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs8019668	chr14:78471043-78471044	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537632627	chr14:78471061-78471062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557247517	chr14:78471090-78471091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567867080	chr14:78471096-78471097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187504269	chr14:78471114-78471115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148327326	chr14:78471132-78471133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553103961	chr14:78471176-78471177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572870880	chr14:78471260-78471261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566723376	chr14:78471285-78471286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545061946	chr14:78471350-78471351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141489536	chr14:78471371-78471372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527621690	chr14:78471381-78471382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150561274	chr14:78471495-78471496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77091639	chr14:78471506-78471507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138604977	chr14:78471518-78471519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529903675	chr14:78471573-78471574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76197724	chr14:78471591-78471592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559461911	chr14:78471706-78471707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114913914	chr14:78471772-78471773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551391576	chr14:78471801-78471802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78071638	chr14:78471808-78471809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12590793	chr14:78471814-78471815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531079868	chr14:78471816-78471817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs8020999	chr14:78471841-78471842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs146276932	chr14:78471861-78471862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71413490	chr14:78471873-78471874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190410363	chr14:78471874-78471875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372477508	chr14:78471914-78471915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567088071	chr14:78471976-78471977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538616280	chr14:78472016-78472017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139062442	chr14:78472038-78472039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377025290	chr14:78472108-78472109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575210384	chr14:78472155-78472156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544132102	chr14:78472186-78472187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182924997	chr14:78472189-78472190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574283979	chr14:78472192-78472193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568217121	chr14:78472270-78472271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143988890	chr14:78472294-78472295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559400588	chr14:78472316-78472317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572975697	chr14:78472317-78472318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545116020	chr14:78472326-78472327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371417524	chr14:78472334-78472335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187980168	chr14:78472361-78472362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530934498	chr14:78472373-78472374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550985865	chr14:78472411-78472412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561664847	chr14:78472412-78472413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530299093	chr14:78472426-78472427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1955567	chr14:78472444-78472445	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78471000-78472800	Enhancers	Stomach Mucosa	stomach
2	chr14:78471200-78472200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:78471200-78472400	Enhancers	K562	blood
4	chr14:78471200-78472600	Enhancers	NHEK	skin
5	chr14:78471200-78473800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr14:78471200-78474000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:78471400-78474000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:78471600-78472400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:78471600-78472600	Enhancers	HMEC	breast
10	chr14:78471600-78472600	Enhancers	NH-A	brain
11	chr14:78471600-78472800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:78471800-78472000	Enhancers	Brain Anterior Caudate	brain
13	chr14:78471800-78472000	Enhancers	Brain Cingulate Gyrus	brain
14	chr14:78471800-78472000	Enhancers	Brain Substantia Nigra	brain
15	chr14:78472000-78472400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr14:78472000-78472600	Enhancers	Hela-S3	cervix
17	chr14:78472000-78473000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:78472000-78473200	Weak transcription	Brain Anterior Caudate	brain
19	chr14:78472000-78476800	Weak transcription	Brain Substantia Nigra	brain
20	chr14:78472600-78473600	Weak transcription	HMEC	breast
21	chr14:78472600-78477200	Weak transcription	NH-A	brain
22	chr14:78473000-78473200	Active TSS	Fetal Muscle Leg	muscle
23	chr14:78473000-78473400	Enhancers	Brain Cingulate Gyrus	brain
24	chr14:78473200-78473600	Enhancers	Brain Anterior Caudate	brain
25	chr14:78473400-78473600	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr14:78473400-78476800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:78473600-78473800	Enhancers	HMEC	breast
28	chr14:78474000-78476600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:78474000-78476800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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