Variant report

Variant	nsv901506
Chromosome Location	chr14:25295551-25377188
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:25347366..25347980-chr8:125299505..125300432,2	MCF-7	breast:
2	chr14:25321574..25322086-chr14:25619974..25620739,2	MCF-7	breast:
3	chr14:25278755..25280361-chr14:25308783..25311776,2	MCF-7	breast:

Extended variants
information (count: 2888 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2888 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs854392	chr14:25295551-25295552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73591637	chr14:25295573-25295574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532114555	chr14:25295595-25295596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576102646	chr14:25295627-25295628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551899459	chr14:25295696-25295697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562537132	chr14:25295697-25295698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188364206	chr14:25295718-25295719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548513464	chr14:25295735-25295736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567907135	chr14:25295770-25295771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543121633	chr14:25295811-25295812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533747646	chr14:25295820-25295821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572944696	chr14:25295821-25295822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546643582	chr14:25295834-25295835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368238610	chr14:25295894-25295895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs965383	chr14:25295900-25295901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533714656	chr14:25295936-25295937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111426196	chr14:25295941-25295942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6574019	chr14:25295949-25295950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191850024	chr14:25295982-25295983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575640380	chr14:25296068-25296069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538147620	chr14:25296110-25296111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183916300	chr14:25296134-25296135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555310471	chr14:25296175-25296176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575036518	chr14:25296177-25296178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541757487	chr14:25296184-25296185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553866976	chr14:25296194-25296195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75249491	chr14:25296210-25296211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35910661	chr14:25296218-25296219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188259354	chr14:25296221-25296222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559626081	chr14:25296223-25296224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530291888	chr14:25296320-25296321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149260542	chr14:25296336-25296337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531378562	chr14:25296369-25296370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541717869	chr14:25296388-25296389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561653906	chr14:25296418-25296419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377601311	chr14:25296419-25296420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371641066	chr14:25296455-25296456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180918851	chr14:25296519-25296520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76749640	chr14:25296526-25296527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17108566	chr14:25296554-25296555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532495154	chr14:25296563-25296564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531060270	chr14:25296644-25296645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552373439	chr14:25296661-25296662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184162242	chr14:25296683-25296684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552677327	chr14:25296704-25296705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569113989	chr14:25296733-25296734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538238018	chr14:25296964-25296965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75058494	chr14:25296998-25296999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373269937	chr14:25297028-25297029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199503880	chr14:25297076-25297077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1202 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25285200-25302200	Weak transcription	HSMM	muscle
2	chr14:25285800-25297800	Weak transcription	HSMMtube	muscle
3	chr14:25286000-25296800	Weak transcription	Esophagus	oesophagus
4	chr14:25287400-25306200	Weak transcription	Brain Anterior Caudate	brain
5	chr14:25287800-25306800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:25288000-25309400	Weak transcription	Lung	lung
7	chr14:25288400-25304400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:25288400-25309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:25288600-25295600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:25288600-25302200	Weak transcription	Left Ventricle	heart
11	chr14:25288600-25322800	Weak transcription	Placenta	Placenta
12	chr14:25288800-25308000	Weak transcription	Fetal Lung	lung
13	chr14:25288800-25317400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:25289200-25309400	Weak transcription	Pancreas	Pancrea
15	chr14:25290000-25300800	Weak transcription	HepG2	liver
16	chr14:25290200-25296000	Weak transcription	Liver	Liver
17	chr14:25290800-25303200	Weak transcription	Right Ventricle	heart
18	chr14:25291600-25298000	Weak transcription	Fetal Intestine Large	intestine
19	chr14:25291600-25298200	Weak transcription	Fetal Intestine Small	intestine
20	chr14:25296200-25298200	Weak transcription	Gastric	stomach
21	chr14:25296600-25297400	Enhancers	Fetal Heart	heart
22	chr14:25297400-25302000	Weak transcription	Fetal Heart	heart
23	chr14:25297600-25298400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:25297800-25298400	Enhancers	HSMMtube	muscle
25	chr14:25298000-25299400	Enhancers	Fetal Intestine Large	intestine
26	chr14:25298200-25299800	Enhancers	Fetal Intestine Small	intestine
27	chr14:25298400-25306600	Weak transcription	HSMMtube	muscle
28	chr14:25298600-25299000	Enhancers	Stomach Mucosa	stomach
29	chr14:25298600-25299600	Enhancers	Duodenum Mucosa	Duodenum
30	chr14:25298800-25299200	Enhancers	Small Intestine	intestine
31	chr14:25299000-25309200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:25299400-25307400	Weak transcription	Fetal Intestine Large	intestine
33	chr14:25299600-25305000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr14:25299800-25307800	Weak transcription	Fetal Intestine Small	intestine
35	chr14:25300800-25301600	Enhancers	HepG2	liver
36	chr14:25301000-25301600	Bivalent Enhancer	Small Intestine	intestine
37	chr14:25301600-25305000	Weak transcription	HepG2	liver
38	chr14:25302000-25302800	Enhancers	Fetal Heart	heart
39	chr14:25302200-25302600	Enhancers	Adipose Nuclei	Adipose
40	chr14:25302200-25302600	Strong transcription	HSMM	muscle
41	chr14:25302200-25302800	Enhancers	Left Ventricle	heart
42	chr14:25302400-25302600	Enhancers	Fetal Muscle Leg	muscle
43	chr14:25302600-25303400	Weak transcription	HSMM	muscle
44	chr14:25302600-25306600	Weak transcription	Fetal Muscle Leg	muscle
45	chr14:25302800-25303200	Weak transcription	Left Ventricle	heart
46	chr14:25302800-25306600	Weak transcription	Fetal Heart	heart
47	chr14:25303200-25303400	Enhancers	Left Ventricle	heart
48	chr14:25303200-25303400	Enhancers	Right Ventricle	heart
49	chr14:25303400-25304800	Strong transcription	HSMM	muscle
50	chr14:25303400-25306600	Weak transcription	Left Ventricle	heart

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