Variant report

Variant	nsv517945
Chromosome Location	chr14:40486344-40501093
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	chr14:40496039..40499019-chr14:40499728..40502198,2	MCF-7	breast:
2	chr14:40496039..40499019-chr14:40499728..40502198,2	MCF-7	breast:

Extended variants
information (count: 392 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371526140	chr14:40488200-40488201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577567817	chr14:40488284-40488285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546138111	chr14:40488300-40488301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184956359	chr14:40488310-40488311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528649512	chr14:40488372-40488373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189653945	chr14:40488381-40488382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562302691	chr14:40488435-40488436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577736426	chr14:40488442-40488443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544720800	chr14:40488443-40488444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551143962	chr14:40488503-40488504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570710816	chr14:40488527-40488528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71437337	chr14:40488564-40488565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376524251	chr14:40488590-40488591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555307059	chr14:40488601-40488602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147119989	chr14:40488671-40488672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559776685	chr14:40488720-40488721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9323012	chr14:40488749-40488750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535391433	chr14:40488761-40488762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113130513	chr14:40488779-40488780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568753850	chr14:40488781-40488782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537498994	chr14:40488853-40488854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557841843	chr14:40488856-40488857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577529399	chr14:40488866-40488867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs36042625	chr14:40488878-40488879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533804968	chr14:40488886-40488887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553514805	chr14:40488919-40488920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562288546	chr14:40488955-40488956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374805063	chr14:40489013-40489014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59913134	chr14:40489048-40489049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61683063	chr14:40489054-40489055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200944949	chr14:40489057-40489058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149565401	chr14:40489059-40489060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542584079	chr14:40489060-40489061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377370676	chr14:40489146-40489147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562264602	chr14:40489150-40489151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182640265	chr14:40489178-40489179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187976415	chr14:40489218-40489219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533116949	chr14:40489228-40489229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116125844	chr14:40489297-40489298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77847608	chr14:40489336-40489337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78832592	chr14:40489368-40489369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546954734	chr14:40489374-40489375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549117320	chr14:40489393-40489394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560321569	chr14:40489419-40489420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529143608	chr14:40489476-40489477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144262484	chr14:40489490-40489491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192056466	chr14:40489511-40489512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151314968	chr14:40489633-40489634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113059750	chr14:40489674-40489675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10129569	chr14:40489682-40489683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40488200-40489600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:40488400-40489600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:40489400-40489600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:40489600-40489800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:40489600-40495200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:40489800-40490600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:40490600-40491400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:40494000-40494200	Enhancers	Fetal Intestine Small	intestine
9	chr14:40494000-40495400	Enhancers	Fetal Intestine Large	intestine
10	chr14:40494800-40495000	Enhancers	Fetal Intestine Small	intestine
11	chr14:40495200-40496000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:40495400-40496600	Weak transcription	Fetal Intestine Large	intestine
13	chr14:40498200-40498600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:40498200-40498600	Enhancers	Colon Smooth Muscle	Colon
15	chr14:40499800-40501200	Weak transcription	Fetal Intestine Large	intestine

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