Variant report

Variant	nsv436454
Chromosome Location	chr5:57680016-57686531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:57679458..57681464-chr5:57685190..57686778,2	MCF-7	breast:
2	chr5:57685717..57687980-chr5:57753512..57756250,3	MCF-7	breast:
3	chr5:57679618..57681387-chr5:57685117..57687190,2	MCF-7	breast:
4	chr5:57679458..57681464-chr5:57685190..57686778,2	MCF-7	breast:
5	chr5:57679618..57681387-chr5:57685117..57687190,2	MCF-7	breast:
6	chr5:57684855..57687554-chr5:57691257..57692769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 94 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113050275	chr5:57680056-57680057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12332562	chr5:57680145-57680146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532615258	chr5:57680208-57680209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10155629	chr5:57680259-57680260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10214192	chr5:57680375-57680376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10155649	chr5:57680427-57680428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10214242	chr5:57680466-57680467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9765634	chr5:57680485-57680486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10155651	chr5:57680494-57680495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529920090	chr5:57680575-57680576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372061301	chr5:57680607-57680608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10214364	chr5:57680676-57680677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10214197	chr5:57680727-57680728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10155622	chr5:57680784-57680785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9688211	chr5:57680925-57680926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9687041	chr5:57680950-57680951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9687796	chr5:57680990-57680991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370188192	chr5:57680997-57680998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9765004	chr5:57681138-57681139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373363959	chr5:57681266-57681267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62368174	chr5:57681378-57681379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12153265	chr5:57681547-57681548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11532633	chr5:57682941-57682942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139081638	chr5:57683287-57683288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201040246	chr5:57683979-57683980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569835614	chr5:57684095-57684096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375894272	chr5:57685389-57685390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368882891	chr5:57685640-57685641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111588280	chr5:57685661-57685662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558816145	chr5:57685664-57685665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112959219	chr5:57685690-57685691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570930089	chr5:57685710-57685711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373783452	chr5:57685910-57685911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs377605979	chr5:57685929-57685930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78964198	chr5:57686087-57686088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77414095	chr5:57686091-57686092	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs75464711	chr5:57686093-57686094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76311796	chr5:57686095-57686096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs79644578	chr5:57686096-57686097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs702725	chr5:57686101-57686102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570525126	chr5:57686184-57686185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534460661	chr5:57686212-57686213	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190597358	chr5:57686232-57686233	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574351746	chr5:57686253-57686254	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs542884705	chr5:57686285-57686286	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145373561	chr5:57686342-57686343	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs697137	chr5:57686433-57686434	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73757779	chr5:57686479-57686480	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565182752	chr5:57686504-57686505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532627871	chr5:57686517-57686518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57677200-57689600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:57686200-57686400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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