Variant report

Variant	nsv965617
Chromosome Location	chr5:51951351-51955270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:50258485..50259404-chr5:51952536..51953715,3	K562	blood:
2	chr5:51948540..51950890-chr5:51952088..51953640,2	MCF-7	breast:
3	chr5:50258228..50259110-chr5:51952776..51953647,3	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368115542	chr5:51951362-51951363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77629670	chr5:51951519-51951520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578187845	chr5:51951622-51951623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371333133	chr5:51951650-51951651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140035095	chr5:51951662-51951663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575877596	chr5:51951696-51951697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71592612	chr5:51951703-51951704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs70974465	chr5:51951708-51951709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113844542	chr5:51951709-51951710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143236563	chr5:51951726-51951727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4580736	chr5:51951730-51951731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3096165	chr5:51951733-51951734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143121716	chr5:51951734-51951735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71592613	chr5:51951738-51951739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542361297	chr5:51951753-51951754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371924654	chr5:51951770-51951771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs70974466	chr5:51951773-51951774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150749048	chr5:51951831-51951832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77507748	chr5:51951842-51951843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79054431	chr5:51951843-51951844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111564581	chr5:51951844-51951845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62358700	chr5:51951846-51951847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62358701	chr5:51951851-51951852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560707846	chr5:51951859-51951860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs16876148	chr5:51951898-51951899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573201524	chr5:51951904-51951905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115978835	chr5:51952021-51952022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73755929	chr5:51952080-51952081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181271	chr5:51952084-51952085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs62358702	chr5:51952129-51952130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs114604499	chr5:51952145-51952146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530168188	chr5:51952192-51952193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182179925	chr5:51952213-51952214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186057263	chr5:51952230-51952231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190479775	chr5:51952432-51952433	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs533122883	chr5:51952448-51952449	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs552767761	chr5:51952456-51952457	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs545255471	chr5:51952491-51952492	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs571041378	chr5:51952511-51952512	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs199613339	chr5:51952522-51952523	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs535369226	chr5:51952546-51952547	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs573927389	chr5:51952554-51952555	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs145865128	chr5:51952668-51952669	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs138433366	chr5:51952680-51952681	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs563550723	chr5:51952808-51952809	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs535909018	chr5:51952870-51952871	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs554265786	chr5:51952911-51952912	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs369578277	chr5:51952964-51952965	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs374266637	chr5:51952965-51952966	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs575759641	chr5:51952970-51952971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:51950000-51952400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:51951200-51951600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:51951600-51956000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:51952400-51953200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:51952800-51953000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:51952800-51953200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:51952800-51953200	Enhancers	Primary T cells from cord blood	blood
8	chr5:51952800-51953200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:51952800-51953200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:51952800-51953200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
11	chr5:51952800-51953200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr5:51952800-51953200	Enhancers	Brain Hippocampus Middle	brain
13	chr5:51952800-51953200	Enhancers	Brain Substantia Nigra	brain
14	chr5:51952800-51953200	Enhancers	Colon Smooth Muscle	Colon
15	chr5:51952800-51954600	Enhancers	Dnd41	blood
16	chr5:51953000-51953200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:51953000-51953200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:51953000-51953200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:51953000-51953200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:51953000-51953200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:51953000-51953200	Enhancers	Brain Anterior Caudate	brain
22	chr5:51953000-51953200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr5:51953000-51953200	Bivalent Enhancer	Fetal Kidney	kidney
24	chr5:51953200-51953400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:51953200-51953400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr5:51953400-51954000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr5:51953400-51956200	Weak transcription	Psoas Muscle	Psoas
28	chr5:51954000-51954400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr5:51954200-51954400	Enhancers	Stomach Smooth Muscle	stomach
30	chr5:51954400-51957800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr5:51954600-51956000	Weak transcription	Dnd41	blood

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