Variant report

Variant	nsv1041445
Chromosome Location	chr14:25326692-25388290
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	chr14:25379876..25382458-chr14:25394201..25396372,2	MCF-7	breast:
2	chr14:25347366..25347980-chr8:125299505..125300432,2	MCF-7	breast:

Extended variants
information (count: 2242 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2242 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545457224	chr14:25326729-25326730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565214774	chr14:25326756-25326757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537128113	chr14:25326768-25326769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371044329	chr14:25326790-25326791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575725856	chr14:25326808-25326809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548234229	chr14:25326884-25326885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146356327	chr14:25326964-25326965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561311251	chr14:25326974-25326975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12893363	chr14:25327045-25327046	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs151152831	chr14:25327221-25327222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547327252	chr14:25327225-25327226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187498072	chr14:25327307-25327308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577015047	chr14:25327346-25327347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532617440	chr14:25327352-25327353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535034088	chr14:25327385-25327386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1461643	chr14:25327387-25327388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373610876	chr14:25327428-25327429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568851349	chr14:25327466-25327467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148300148	chr14:25327475-25327476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs854329	chr14:25327542-25327543	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs567727158	chr14:25327552-25327553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17109020	chr14:25327581-25327582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568000797	chr14:25327647-25327648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116861736	chr14:25327687-25327688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577099178	chr14:25327708-25327709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541607524	chr14:25327734-25327735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs854330	chr14:25327736-25327737	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556361960	chr14:25327787-25327788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190745234	chr14:25327792-25327793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61976833	chr14:25327817-25327818	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561223877	chr14:25327858-25327859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574901902	chr14:25327893-25327894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540900063	chr14:25327941-25327942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560743922	chr14:25327949-25327950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375707325	chr14:25327998-25327999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532874221	chr14:25328000-25328001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386775731	chr14:25328036-25328037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191851455	chr14:25328037-25328038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531269132	chr14:25328047-25328048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11851539	chr14:25328060-25328061	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs36023373	chr14:25328062-25328063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567692868	chr14:25328091-25328092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs854331	chr14:25328163-25328164	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs854332	chr14:25328208-25328209	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546302660	chr14:25328213-25328214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570644469	chr14:25328232-25328233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531505897	chr14:25328278-25328279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527512829	chr14:25328283-25328284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539765737	chr14:25328306-25328307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12895258	chr14:25328326-25328327	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:1012 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25309000-25328000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:25314600-25333600	Weak transcription	Lung	lung
3	chr14:25315600-25330400	Weak transcription	Brain Angular Gyrus	brain
4	chr14:25316000-25330400	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:25317800-25344000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:25318000-25328400	Weak transcription	Right Ventricle	heart
7	chr14:25318200-25330200	Weak transcription	Fetal Heart	heart
8	chr14:25319000-25330400	Weak transcription	Adipose Nuclei	Adipose
9	chr14:25319600-25344600	Weak transcription	NHDF-Ad	bronchial
10	chr14:25320000-25330200	Weak transcription	HSMMtube	muscle
11	chr14:25321000-25328200	Weak transcription	NH-A	brain
12	chr14:25321400-25330200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:25321600-25328200	Weak transcription	Brain Anterior Caudate	brain
14	chr14:25321600-25333600	Weak transcription	Fetal Muscle Leg	muscle
15	chr14:25321800-25327000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:25322000-25330400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:25322600-25326800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:25322600-25328400	Weak transcription	Psoas Muscle	Psoas
19	chr14:25322800-25327200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:25323400-25330200	Weak transcription	Fetal Intestine Large	intestine
21	chr14:25323600-25327000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:25323600-25330200	Weak transcription	Fetal Intestine Small	intestine
23	chr14:25323600-25333600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:25324000-25330400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:25324000-25330600	Weak transcription	Pancreas	Pancrea
26	chr14:25324400-25330800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:25324800-25330000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:25325200-25329600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:25325400-25327000	Weak transcription	Left Ventricle	heart
30	chr14:25325400-25330200	Weak transcription	HepG2	liver
31	chr14:25325600-25329600	Weak transcription	HSMM	muscle
32	chr14:25326200-25326800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:25326200-25327600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:25326200-25328000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr14:25326200-25328400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr14:25326200-25328600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr14:25326200-25328600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr14:25326400-25327600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr14:25326400-25328200	Weak transcription	Fetal Lung	lung
40	chr14:25326400-25328400	Weak transcription	Right Atrium	heart
41	chr14:25326400-25329000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr14:25326400-25330400	Weak transcription	Stomach Mucosa	stomach
43	chr14:25326400-25343600	Weak transcription	Gastric	stomach
44	chr14:25326600-25330200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr14:25326800-25327400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:25326800-25327800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr14:25327000-25327200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:25327000-25327600	Enhancers	Left Ventricle	heart
49	chr14:25327000-25329200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr14:25327200-25327800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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