Variant report

Variant	nsv969234
Chromosome Location	chr5:91862074-91866671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536189101	chr5:91862074-91862075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35514767	chr5:91862106-91862107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555381759	chr5:91862114-91862115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368306239	chr5:91862115-91862116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145358736	chr5:91862116-91862117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181692183	chr5:91862117-91862118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149189684	chr5:91862245-91862246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577716308	chr5:91862335-91862336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376692786	chr5:91862405-91862406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540059488	chr5:91862448-91862449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559978509	chr5:91862456-91862457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377670110	chr5:91862474-91862475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370016185	chr5:91862497-91862498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529133697	chr5:91862504-91862505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548892979	chr5:91862656-91862657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561930439	chr5:91862657-91862658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185820703	chr5:91862691-91862692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372281532	chr5:91862729-91862730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535029459	chr5:91862797-91862798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191552524	chr5:91862798-91862799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111706591	chr5:91862812-91862813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547201546	chr5:91862815-91862816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182872145	chr5:91862844-91862845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536154013	chr5:91862883-91862884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565589348	chr5:91862891-91862892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556137161	chr5:91862960-91862961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139326698	chr5:91863023-91863024	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs537850150	chr5:91863024-91863025	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs141995793	chr5:91863027-91863028	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs72779042	chr5:91863088-91863089	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537595842	chr5:91863097-91863098	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs539970156	chr5:91863250-91863251	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs535010708	chr5:91863264-91863265	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs559892315	chr5:91863276-91863277	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs187944749	chr5:91863292-91863293	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs148864692	chr5:91863319-91863320	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs564007952	chr5:91863331-91863332	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs542475384	chr5:91863346-91863347	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs562805794	chr5:91863372-91863373	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs56213708	chr5:91863378-91863379	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114674603	chr5:91863410-91863411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368809700	chr5:91863461-91863462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371509250	chr5:91863482-91863483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564357773	chr5:91863489-91863490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533443989	chr5:91863490-91863491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61336224	chr5:91863493-91863494	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190631316	chr5:91863507-91863508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373825291	chr5:91863535-91863536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529518713	chr5:91863554-91863555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549363719	chr5:91863563-91863564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91854600-91864200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:91855000-91862200	Weak transcription	NHDF-Ad	bronchial
3	chr5:91862200-91862400	Enhancers	NHDF-Ad	bronchial
4	chr5:91862400-91862800	Weak transcription	NHDF-Ad	bronchial
5	chr5:91862600-91862800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:91862600-91864400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:91862800-91863000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:91862800-91863800	Enhancers	HSMMtube	muscle
9	chr5:91862800-91863800	Enhancers	Osteobl	bone
10	chr5:91862800-91864400	Enhancers	NHDF-Ad	bronchial
11	chr5:91863000-91863400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr5:91863000-91863400	Enhancers	Ovary	ovary
13	chr5:91863000-91863600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:91863000-91864200	Enhancers	HSMM	muscle
15	chr5:91863000-91864400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:91863400-91864200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:91864200-91864400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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