Variant report

Variant	nsv881702
Chromosome Location	chr5:58432413-58474854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:58329956..58330645-chr5:58469795..58470725,3	MCF-7	breast:
2	chr5:58187094..58187737-chr5:58469769..58470270,2	MCF-7	breast:
3	chr5:58182290..58183191-chr5:58469771..58470690,2	MCF-7	breast:
4	chr5:58329837..58331265-chr5:58469751..58470698,8	MCF-7	breast:

Extended variants
information (count: 1611 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1611 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10062340	chr5:58432413-58432414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549038746	chr5:58432466-58432467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10062397	chr5:58432489-58432490	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs538007119	chr5:58432525-58432526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557537040	chr5:58432526-58432527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577465539	chr5:58432585-58432586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192002042	chr5:58432635-58432636	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7707392	chr5:58432672-58432673	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573957733	chr5:58432716-58432717	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs556591728	chr5:58432755-58432756	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs542679308	chr5:58432761-58432762	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575011955	chr5:58432775-58432776	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs7707566	chr5:58432780-58432781	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576468216	chr5:58432898-58432899	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs116463691	chr5:58432924-58432925	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs77757011	chr5:58432992-58432993	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572501548	chr5:58433006-58433007	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs565474816	chr5:58433017-58433018	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs527528486	chr5:58433048-58433049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs543311195	chr5:58433075-58433076	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs527926748	chr5:58433083-58433084	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs184556437	chr5:58433187-58433188	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs561593761	chr5:58433243-58433244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546487855	chr5:58433247-58433248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528850784	chr5:58433265-58433266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7444519	chr5:58433284-58433285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187175438	chr5:58433342-58433343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138245377	chr5:58433352-58433353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61134818	chr5:58433368-58433369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201980684	chr5:58433369-58433370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374530645	chr5:58433376-58433377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568891470	chr5:58433377-58433378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531305729	chr5:58433385-58433386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372453314	chr5:58433396-58433397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368448753	chr5:58433412-58433413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370629544	chr5:58433416-58433417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191914965	chr5:58433441-58433442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184409337	chr5:58433454-58433455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533767517	chr5:58433463-58433464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553622164	chr5:58433479-58433480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10055095	chr5:58433491-58433492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531882599	chr5:58433499-58433500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556286646	chr5:58433510-58433511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576429721	chr5:58433513-58433514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545507114	chr5:58433514-58433515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559126202	chr5:58433534-58433535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572653174	chr5:58433543-58433544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541664860	chr5:58433544-58433545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561588900	chr5:58433558-58433559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532881657	chr5:58433575-58433576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastric cancer	22315472	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58424000-58439800	Weak transcription	Small Intestine	intestine
2	chr5:58424000-58447000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:58424200-58432800	Weak transcription	Right Ventricle	heart
4	chr5:58424200-58446200	Weak transcription	Fetal Intestine Large	intestine
5	chr5:58424200-58446600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:58427200-58454000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr5:58428800-58435800	Weak transcription	Fetal Heart	heart
8	chr5:58429800-58433800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:58429800-58447200	Weak transcription	Left Ventricle	heart
10	chr5:58430000-58432600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:58430000-58434400	Weak transcription	Psoas Muscle	Psoas
12	chr5:58430000-58437000	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:58430000-58442600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:58430400-58432600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:58430600-58432600	Enhancers	A549	lung
16	chr5:58431000-58432800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:58431000-58440000	Weak transcription	Fetal Lung	lung
18	chr5:58431200-58435200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr5:58431200-58437400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:58432200-58435400	Enhancers	Hela-S3	cervix
21	chr5:58432600-58433000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:58432600-58433000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:58432600-58433000	Enhancers	Fetal Muscle Leg	muscle
24	chr5:58432600-58433000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr5:58432600-58433200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:58432600-58433200	Flanking Active TSS	A549	lung
27	chr5:58432800-58433000	Enhancers	Right Ventricle	heart
28	chr5:58432800-58436000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr5:58433000-58433200	Weak transcription	Right Ventricle	heart
30	chr5:58433000-58451600	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:58433200-58434600	Enhancers	A549	lung
32	chr5:58433200-58435200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:58433400-58434000	Enhancers	Placenta	Placenta
34	chr5:58433600-58433800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:58434400-58435400	Enhancers	Psoas Muscle	Psoas
36	chr5:58434600-58435000	Flanking Active TSS	A549	lung
37	chr5:58434800-58437800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:58435000-58439600	Genic enhancers	A549	lung
39	chr5:58435200-58438000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr5:58435200-58439000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:58435400-58437200	Weak transcription	Psoas Muscle	Psoas
42	chr5:58435400-58442400	Weak transcription	Hela-S3	cervix
43	chr5:58435800-58436000	Enhancers	GM12878-XiMat	blood
44	chr5:58435800-58437600	Enhancers	Fetal Heart	heart
45	chr5:58436000-58439200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:58436600-58437400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr5:58437000-58437400	Enhancers	GM12878-XiMat	blood
48	chr5:58437000-58438200	Enhancers	Colon Smooth Muscle	Colon
49	chr5:58437200-58437400	Enhancers	Rectal Smooth Muscle	rectum
50	chr5:58437200-58437800	Enhancers	Psoas Muscle	Psoas

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