Variant report

Variant	nsv968079
Chromosome Location	chr5:15858764-15862907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs151231909	chr5:15858779-15858780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570835926	chr5:15858783-15858784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117992159	chr5:15858800-15858801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528294201	chr5:15858830-15858831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373000848	chr5:15858854-15858855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139138049	chr5:15858862-15858863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548459621	chr5:15858934-15858935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144111147	chr5:15858962-15858963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73062156	chr5:15859010-15859011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192104536	chr5:15859037-15859038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570834412	chr5:15859050-15859051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537940921	chr5:15859082-15859083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556738698	chr5:15859108-15859109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144684857	chr5:15859145-15859146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182391374	chr5:15859146-15859147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554032420	chr5:15859150-15859151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546612725	chr5:15859166-15859167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572201617	chr5:15859186-15859187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10474718	chr5:15859230-15859231	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186062416	chr5:15859258-15859259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576035348	chr5:15859288-15859289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559789805	chr5:15859311-15859312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370488651	chr5:15859358-15859359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114931474	chr5:15859398-15859399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189648081	chr5:15859407-15859408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182580195	chr5:15859427-15859428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76273116	chr5:15859433-15859434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541990126	chr5:15859446-15859447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145437823	chr5:15859481-15859482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186899833	chr5:15859520-15859521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114576523	chr5:15859558-15859559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148837245	chr5:15859580-15859581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115481337	chr5:15859581-15859582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531765781	chr5:15859591-15859592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550281488	chr5:15859596-15859597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185405	chr5:15859611-15859612	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535958326	chr5:15859634-15859635	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547577195	chr5:15859690-15859691	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565910098	chr5:15859697-15859698	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116644823	chr5:15859746-15859747	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558061500	chr5:15859783-15859784	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370163315	chr5:15859811-15859812	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575933684	chr5:15859820-15859821	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536617802	chr5:15859822-15859823	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190502004	chr5:15859825-15859826	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143813603	chr5:15859841-15859842	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376260808	chr5:15859852-15859853	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540736015	chr5:15859878-15859879	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183248721	chr5:15859879-15859880	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572643711	chr5:15859901-15859902	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15851800-15870400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:15853400-15865200	Weak transcription	Ovary	ovary
3	chr5:15853800-15861400	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:15855800-15865600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:15856600-15858800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:15856600-15861400	Weak transcription	Aorta	Aorta
7	chr5:15857600-15861600	Weak transcription	Fetal Brain Male	brain
8	chr5:15857600-15865200	Weak transcription	Left Ventricle	heart
9	chr5:15858000-15859200	Weak transcription	Fetal Heart	heart
10	chr5:15859200-15860600	Enhancers	Fetal Heart	heart
11	chr5:15859600-15861800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:15860600-15860800	Flanking Active TSS	Fetal Heart	heart
13	chr5:15860600-15861400	Weak transcription	Right Ventricle	heart
14	chr5:15860800-15861000	Enhancers	Fetal Heart	heart
15	chr5:15861000-15861200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:15861000-15861200	Flanking Active TSS	Fetal Heart	heart
17	chr5:15861000-15861600	Enhancers	HSMMtube	muscle
18	chr5:15861200-15861600	Enhancers	Fetal Heart	heart
19	chr5:15861200-15870000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:15861400-15861600	ZNF genes & repeats	Aorta	Aorta
21	chr5:15861400-15861600	Enhancers	Right Ventricle	heart
22	chr5:15861600-15863000	Weak transcription	Fetal Heart	heart
23	chr5:15861600-15863800	Weak transcription	Right Ventricle	heart
24	chr5:15861600-15865200	Weak transcription	Aorta	Aorta
25	chr5:15862000-15865200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:15862800-15863200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:15862800-15864800	Weak transcription	Fetal Stomach	stomach

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