Variant report

Variant	nsv523147
Chromosome Location	chr5:147302214-147309468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 313 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17107495	chr5:147302214-147302215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557365809	chr5:147302222-147302223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73265241	chr5:147302267-147302268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534602001	chr5:147302356-147302357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139808343	chr5:147302364-147302365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17774641	chr5:147302365-147302366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs113302577	chr5:147302376-147302377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11168005	chr5:147302387-147302388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs143936706	chr5:147302430-147302431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572785647	chr5:147302435-147302436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554855694	chr5:147302445-147302446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573432353	chr5:147302460-147302461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540832773	chr5:147302472-147302473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535667195	chr5:147302474-147302475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546652543	chr5:147302493-147302494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577627658	chr5:147302548-147302549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555272362	chr5:147302612-147302613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116730110	chr5:147302619-147302620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530505820	chr5:147302639-147302640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549100566	chr5:147302644-147302645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560921497	chr5:147302656-147302657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368085085	chr5:147302660-147302661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1465404	chr5:147302767-147302768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs546396469	chr5:147302775-147302776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72827202	chr5:147302836-147302837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538577930	chr5:147302855-147302856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550685772	chr5:147302857-147302858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569277736	chr5:147302861-147302862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536345166	chr5:147302862-147302863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555003011	chr5:147302875-147302876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187560605	chr5:147302877-147302878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534356294	chr5:147302882-147302883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191643053	chr5:147302907-147302908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13360004	chr5:147302941-147302942	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs6580510	chr5:147302959-147302960	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs115261465	chr5:147302969-147302970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577732434	chr5:147302973-147302974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536821987	chr5:147302986-147302987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111762473	chr5:147302991-147302992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575240680	chr5:147303000-147303001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542259667	chr5:147303021-147303022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560994396	chr5:147303036-147303037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs721570	chr5:147303051-147303052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs117557421	chr5:147303059-147303060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564774085	chr5:147303123-147303124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114965484	chr5:147303130-147303131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550899524	chr5:147303195-147303196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569060992	chr5:147303233-147303234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534356709	chr5:147303268-147303269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565957742	chr5:147303305-147303306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147300600-147302600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:147301200-147306600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:147302200-147306600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:147302800-147303000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:147304400-147304800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:147304600-147305000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:147304600-147305000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:147304600-147305000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:147306600-147307200	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:147306600-147307600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:147306600-147308600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:147306600-147309000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr5:147306600-147310200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:147306800-147307600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr5:147307200-147314200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:147307600-147307800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:147307600-147308400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:147307600-147308400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr5:147307800-147308000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:147308000-147308200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:147308200-147312200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:147308400-147309800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr5:147308600-147309600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr5:147309000-147309600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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