Variant report

Variant	nsv564064
Chromosome Location	chr14:25257780-25262886
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	chr14:25257418..25259625-chr14:25262130..25263668,2	MCF-7	breast:
2	chr14:25257418..25259625-chr14:25262130..25263668,2	MCF-7	breast:

Extended variants
information (count: 192 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17795538	chr14:25257780-25257781	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541180468	chr14:25257820-25257821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564128757	chr14:25257881-25257882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190476059	chr14:25257923-25257924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181328787	chr14:25257932-25257933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185595293	chr14:25257966-25257967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562676134	chr14:25257985-25257986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76160619	chr14:25257999-25258000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367590018	chr14:25258043-25258044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533419338	chr14:25258047-25258048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552411223	chr14:25258060-25258061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548221444	chr14:25258119-25258120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568724587	chr14:25258159-25258160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371386172	chr14:25258164-25258165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374899456	chr14:25258179-25258180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570626006	chr14:25258194-25258195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534231456	chr14:25258232-25258233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35564238	chr14:25258284-25258285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191093831	chr14:25258304-25258305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145731172	chr14:25258319-25258320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539280316	chr14:25258338-25258339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182992281	chr14:25258356-25258357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187571202	chr14:25258386-25258387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192507302	chr14:25258443-25258444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183655278	chr14:25258476-25258477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376610013	chr14:25258501-25258502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528409112	chr14:25258536-25258537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572257266	chr14:25258656-25258657	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs540988986	chr14:25258780-25258781	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs187419833	chr14:25258824-25258825	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs191956150	chr14:25258827-25258828	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs543240292	chr14:25258828-25258829	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs562637468	chr14:25258840-25258841	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs148902730	chr14:25258862-25258863	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs541777579	chr14:25258881-25258882	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs561965059	chr14:25258922-25258923	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs74037660	chr14:25259015-25259016	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547759705	chr14:25259032-25259033	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs571153368	chr14:25259035-25259036	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs57330361	chr14:25259088-25259089	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs117822282	chr14:25259187-25259188	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs147604933	chr14:25259218-25259219	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs535547815	chr14:25259247-25259248	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs555314072	chr14:25259302-25259303	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs7142853	chr14:25259329-25259330	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs534647337	chr14:25259377-25259378	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs11844925	chr14:25259378-25259379	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs577560729	chr14:25259379-25259380	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs543201586	chr14:25259427-25259428	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs556743863	chr14:25259469-25259470	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25254400-25258200	Weak transcription	Fetal Muscle Leg	muscle
2	chr14:25255400-25261800	Enhancers	Fetal Lung	lung
3	chr14:25256800-25258800	Weak transcription	Fetal Brain Male	brain
4	chr14:25257000-25258200	Weak transcription	Left Ventricle	heart
5	chr14:25257200-25258200	Weak transcription	Fetal Intestine Small	intestine
6	chr14:25257400-25258600	Weak transcription	Fetal Intestine Large	intestine
7	chr14:25258000-25259200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:25258200-25258800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr14:25258200-25259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:25258200-25259000	Enhancers	Fetal Intestine Small	intestine
11	chr14:25258200-25259000	Enhancers	Rectal Smooth Muscle	rectum
12	chr14:25258200-25259200	Enhancers	Colon Smooth Muscle	Colon
13	chr14:25258200-25259200	Enhancers	Duodenum Mucosa	Duodenum
14	chr14:25258200-25259200	Enhancers	Fetal Muscle Leg	muscle
15	chr14:25258200-25259200	Enhancers	Fetal Stomach	stomach
16	chr14:25258200-25259200	Enhancers	Left Ventricle	heart
17	chr14:25258200-25259800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:25258400-25259000	Enhancers	Brain Germinal Matrix	brain
19	chr14:25258400-25259200	Enhancers	Adipose Nuclei	Adipose
20	chr14:25258400-25259200	Enhancers	Right Ventricle	heart
21	chr14:25258400-25259200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr14:25258400-25260000	Enhancers	Stomach Mucosa	stomach
23	chr14:25258600-25259400	Enhancers	Fetal Intestine Large	intestine
24	chr14:25258600-25259800	Bivalent Enhancer	HepG2	liver
25	chr14:25258800-25259000	Enhancers	Fetal Brain Male	brain
26	chr14:25258800-25259000	Enhancers	Stomach Smooth Muscle	stomach
27	chr14:25259000-25263800	Weak transcription	Fetal Brain Male	brain
28	chr14:25259200-25261600	Weak transcription	Fetal Muscle Leg	muscle
29	chr14:25260800-25261800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr14:25261600-25261800	Enhancers	Fetal Muscle Leg	muscle
31	chr14:25261800-25264400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr14:25261800-25268200	Weak transcription	Fetal Lung	lung
33	chr14:25262400-25263400	Bivalent Enhancer	HepG2	liver

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