Variant report

Variant	esv11978
Chromosome Location	chr14:40354008-40373562
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	chr14:40347954..40350203-chr14:40354065..40355605,2	MCF-7	breast:

Extended variants
information (count: 644 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185872791	chr14:40354046-40354047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78515505	chr14:40354060-40354061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145597092	chr14:40354099-40354100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533727624	chr14:40354102-40354103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547220433	chr14:40354144-40354145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567008198	chr14:40354147-40354148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536365861	chr14:40354169-40354170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555861477	chr14:40354248-40354249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60029883	chr14:40354260-40354261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540937496	chr14:40354284-40354285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558419814	chr14:40354295-40354296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537875355	chr14:40354324-40354325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540806217	chr14:40354349-40354350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56000609	chr14:40354350-40354351	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146415922	chr14:40354374-40354375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148382756	chr14:40354401-40354402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543128670	chr14:40354557-40354558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562691154	chr14:40354563-40354564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs118131219	chr14:40354572-40354573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190331899	chr14:40354614-40354615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149025624	chr14:40354616-40354617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs8004765	chr14:40354622-40354623	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143032307	chr14:40354629-40354630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533254880	chr14:40354631-40354632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567149156	chr14:40354632-40354633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529711612	chr14:40354668-40354669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549858718	chr14:40354685-40354686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538575941	chr14:40354717-40354718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553546428	chr14:40354731-40354732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148208007	chr14:40354746-40354747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538627077	chr14:40354772-40354773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373805348	chr14:40354798-40354799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558615751	chr14:40354842-40354843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571953235	chr14:40354914-40354915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551541505	chr14:40354927-40354928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534511179	chr14:40355001-40355002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554377463	chr14:40355036-40355037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574284928	chr14:40355051-40355052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542712034	chr14:40355097-40355098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114746813	chr14:40355134-40355135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181502292	chr14:40355187-40355188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545372743	chr14:40355193-40355194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186436500	chr14:40355205-40355206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527556881	chr14:40355250-40355251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570625567	chr14:40355259-40355260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542666656	chr14:40355268-40355269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540932414	chr14:40355294-40355295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554369779	chr14:40355327-40355328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34509269	chr14:40355366-40355367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560709884	chr14:40355374-40355375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Colorectal cancer	16774939	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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40346400-40358000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:40347400-40354800	Weak transcription	Fetal Intestine Large	intestine
3	chr14:40352000-40357000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:40353600-40355000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:40353600-40355200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr14:40354800-40355600	Enhancers	Fetal Intestine Large	intestine
7	chr14:40355000-40363400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:40358000-40358200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:40358000-40358200	ZNF genes & repeats	Pancreas	Pancrea
10	chr14:40363400-40363800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:40363800-40366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:40366800-40367200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:40367200-40371800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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