Variant report

Variant	nsv564894
Chromosome Location	chr14:63721611-63724585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17824504	chr14:63721611-63721612	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534858266	chr14:63721616-63721617	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544793029	chr14:63721627-63721628	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574617878	chr14:63721641-63721642	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543518586	chr14:63721660-63721661	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556753150	chr14:63721699-63721700	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141178479	chr14:63721713-63721714	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564395463	chr14:63721782-63721783	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545441448	chr14:63721867-63721868	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79366786	chr14:63721888-63721889	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540995411	chr14:63721904-63721905	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74059344	chr14:63721908-63721909	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542047461	chr14:63721954-63721955	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561931895	chr14:63721978-63721979	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74059345	chr14:63721986-63721987	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs540611001	chr14:63722083-63722084	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560518628	chr14:63722086-63722087	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551079037	chr14:63722102-63722103	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570813102	chr14:63722146-63722147	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561499702	chr14:63722260-63722261	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192792377	chr14:63722291-63722292	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184252539	chr14:63722292-63722293	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566006502	chr14:63722378-63722379	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80342473	chr14:63722379-63722380	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529194467	chr14:63722421-63722422	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188314685	chr14:63722432-63722433	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146898877	chr14:63722482-63722483	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557034921	chr14:63722549-63722550	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74059347	chr14:63722550-63722551	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545812095	chr14:63722555-63722556	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs61996644	chr14:63722573-63722574	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140771576	chr14:63722574-63722575	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370317715	chr14:63722575-63722576	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552544503	chr14:63722584-63722585	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111271440	chr14:63722626-63722627	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386778241	chr14:63722627-63722628	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181838462	chr14:63722629-63722630	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184833822	chr14:63722670-63722671	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145885096	chr14:63722680-63722681	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575814542	chr14:63722685-63722686	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544467677	chr14:63722691-63722692	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148971383	chr14:63722703-63722704	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143774467	chr14:63722708-63722709	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112423064	chr14:63722717-63722718	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547404604	chr14:63722722-63722723	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376712420	chr14:63722745-63722746	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562807676	chr14:63722755-63722756	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529258642	chr14:63722758-63722759	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570418399	chr14:63722783-63722784	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189611988	chr14:63722798-63722799	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63676400-63733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:63700600-63732400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:63708000-63733600	Weak transcription	Left Ventricle	heart
4	chr14:63716000-63723400	Strong transcription	HUVEC	blood vessel
5	chr14:63716000-63729000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:63716000-63754600	Weak transcription	Aorta	Aorta
7	chr14:63716200-63722600	Weak transcription	Right Atrium	heart
8	chr14:63716800-63731400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:63717400-63730200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:63717400-63734200	Weak transcription	Fetal Lung	lung
11	chr14:63717400-63754800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:63717800-63733600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:63718800-63728200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:63720400-63721800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:63720600-63725800	Strong transcription	Fetal Stomach	stomach
16	chr14:63720800-63722400	Weak transcription	Right Ventricle	heart
17	chr14:63720800-63723200	Genic enhancers	Fetal Muscle Leg	muscle
18	chr14:63720800-63733800	Weak transcription	NH-A	brain
19	chr14:63721000-63733600	Weak transcription	Lung	lung
20	chr14:63721200-63721800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr14:63721200-63733600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:63721400-63728400	Weak transcription	Brain Anterior Caudate	brain
23	chr14:63721600-63722400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:63721800-63723200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr14:63721800-63733600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr14:63722400-63722600	Enhancers	Right Ventricle	heart
27	chr14:63722400-63723200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:63722600-63723200	Weak transcription	Right Ventricle	heart
29	chr14:63722800-63723000	Enhancers	Right Atrium	heart
30	chr14:63723200-63723400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:63723200-63723400	Enhancers	Right Ventricle	heart
32	chr14:63723200-63723600	Enhancers	Fetal Muscle Leg	muscle
33	chr14:63723200-63727400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:63723200-63727400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:63723400-63725400	Weak transcription	HUVEC	blood vessel
36	chr14:63723600-63723800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:63723600-63732600	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:63723800-63724400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:63724000-63724200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:63724000-63724400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:63724400-63724600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links