Variant report

Variant	esv3364187
Chromosome Location	chr14:24484812-24493310
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	chr14:24482659..24484974-chr14:24503307..24504865,2	MCF-7	breast:

Extended variants
information (count: 245 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540706392	chr14:24484816-24484817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185027334	chr14:24484836-24484837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373151422	chr14:24484843-24484844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143112808	chr14:24484862-24484863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562991851	chr14:24484863-24484864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35753952	chr14:24484890-24484891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148248806	chr14:24484903-24484904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189442602	chr14:24484909-24484910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200852406	chr14:24484934-24484935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11849560	chr14:24484935-24484936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547083681	chr14:24484958-24484959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570539536	chr14:24484961-24484962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72692127	chr14:24485008-24485009	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552004776	chr14:24485009-24485010	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375276947	chr14:24485010-24485011	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs150322683	chr14:24485016-24485017	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs555165516	chr14:24485068-24485069	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs138050959	chr14:24485089-24485090	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs535729220	chr14:24485093-24485094	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs117859935	chr14:24485097-24485098	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192764246	chr14:24485099-24485100	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs374534378	chr14:24485102-24485103	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs534226247	chr14:24485145-24485146	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs553933814	chr14:24485146-24485147	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs112782092	chr14:24485158-24485159	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs35497059	chr14:24485159-24485160	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs143400553	chr14:24485189-24485190	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556703220	chr14:24485190-24485191	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs113355458	chr14:24485192-24485193	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs542114740	chr14:24485202-24485203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562088110	chr14:24485203-24485204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112495596	chr14:24485218-24485219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372361931	chr14:24485227-24485228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540630684	chr14:24485253-24485254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563999465	chr14:24485272-24485273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184131745	chr14:24485279-24485280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569808430	chr14:24485295-24485296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190674680	chr14:24485302-24485303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549289174	chr14:24485309-24485310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565988279	chr14:24485319-24485320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534135281	chr14:24485320-24485321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180779936	chr14:24485330-24485331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185183663	chr14:24485365-24485366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188240901	chr14:24485368-24485369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11849706	chr14:24485381-24485382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570792590	chr14:24485390-24485391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374940374	chr14:24485407-24485408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60770850	chr14:24485408-24485409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556429327	chr14:24485424-24485425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576220067	chr14:24485494-24485495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21390271	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24480400-24485000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:24480600-24486600	Weak transcription	Thymus	Thymus
3	chr14:24481200-24486400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:24483600-24485000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:24483600-24485400	Weak transcription	Fetal Thymus	thymus
6	chr14:24483600-24485800	Weak transcription	Ovary	ovary
7	chr14:24483600-24486200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:24483600-24486200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:24483600-24486800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr14:24483800-24485000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr14:24483800-24488200	Weak transcription	Dnd41	blood
12	chr14:24484800-24485400	Enhancers	HepG2	liver
13	chr14:24485000-24485200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr14:24485000-24485200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr14:24485000-24485200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:24486800-24487200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:24492800-24494600	Enhancers	HepG2	liver

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