Variant report

Variant	nsv508363
Chromosome Location	chr5:61287078-61362885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:61288113..61290952-chr5:61291364..61292947,2	K562	blood:
2	chr5:61290242..61292667-chr5:61292946..61295835,2	MCF-7	breast:
3	chr5:61288113..61290952-chr5:61291364..61292947,2	K562	blood:
4	chr5:61296910..61298928-chr5:61315407..61317934,2	MCF-7	breast:
5	chr5:61290242..61292667-chr5:61292946..61295835,2	MCF-7	breast:
6	chr5:61334280..61336026-chr5:61338071..61340993,2	MCF-7	breast:
7	chr5:61354756..61356477-chr5:61362437..61365300,2	MCF-7	breast:
8	chr5:61354756..61356477-chr5:61362437..61365300,2	MCF-7	breast:
9	chr5:61296910..61298928-chr5:61315407..61317934,2	MCF-7	breast:
10	chr5:61334280..61336026-chr5:61338071..61340993,2	MCF-7	breast:

No data

Extended variants
information (count: 2451 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2451 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188059973	chr5:61287120-61287121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34713683	chr5:61287149-61287150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192247810	chr5:61287158-61287159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377377533	chr5:61287159-61287160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13176563	chr5:61287192-61287193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147123622	chr5:61287204-61287205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550651291	chr5:61287261-61287262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369504988	chr5:61287270-61287271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13180452	chr5:61287272-61287273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57666590	chr5:61287283-61287284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184795669	chr5:61287293-61287294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138524810	chr5:61287304-61287305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566147073	chr5:61287365-61287366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368741442	chr5:61287401-61287402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548940647	chr5:61287434-61287435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568806129	chr5:61287437-61287438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115615294	chr5:61287440-61287441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558175716	chr5:61287444-61287445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558453427	chr5:61287472-61287473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572071043	chr5:61287481-61287482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189399098	chr5:61287509-61287510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534143127	chr5:61287516-61287517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553812676	chr5:61287531-61287532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371308305	chr5:61287555-61287556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573779333	chr5:61287687-61287688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558047515	chr5:61287692-61287693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578037447	chr5:61287697-61287698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73760534	chr5:61287698-61287699	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4700454	chr5:61287706-61287707	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2100035	chr5:61287725-61287726	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564375984	chr5:61287755-61287756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142583157	chr5:61287772-61287773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556092830	chr5:61287788-61287789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575646631	chr5:61287815-61287816	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs546833819	chr5:61287826-61287827	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs560415365	chr5:61287872-61287873	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs192350307	chr5:61288001-61288002	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs548845072	chr5:61288003-61288004	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs146738516	chr5:61288043-61288044	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs386688498	chr5:61288048-61288049	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs149364453	chr5:61288050-61288051	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs551627159	chr5:61288094-61288095	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs555809971	chr5:61288127-61288128	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs545299063	chr5:61288201-61288202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534252719	chr5:61288277-61288278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115935820	chr5:61288279-61288280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61414571	chr5:61288283-61288284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536743626	chr5:61288308-61288309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556394955	chr5:61288317-61288318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576338985	chr5:61288382-61288383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Intellectual disability	22102821	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
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	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
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	20729466	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
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
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61286000-61287200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:61286000-61288200	Enhancers	Fetal Intestine Large	intestine
3	chr5:61286000-61288800	Enhancers	Fetal Intestine Small	intestine
4	chr5:61286200-61287800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:61286400-61287400	Weak transcription	HMEC	breast
6	chr5:61286600-61287800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr5:61286600-61293400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:61287200-61287600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:61287200-61287600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:61287200-61287800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:61287200-61288800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:61287400-61287600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:61287400-61288200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:61287400-61288200	Enhancers	HMEC	breast
15	chr5:61287400-61290200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:61287600-61288200	Enhancers	HSMMtube	muscle
17	chr5:61287600-61289200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:61287600-61291200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:61287800-61288000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:61287800-61288200	Bivalent Enhancer	HSMM	muscle
21	chr5:61287800-61289000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:61288000-61289800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:61288000-61294800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:61288200-61289200	Weak transcription	HSMMtube	muscle
25	chr5:61288200-61291200	Weak transcription	Fetal Intestine Large	intestine
26	chr5:61288800-61289400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:61288800-61291800	Weak transcription	Fetal Intestine Small	intestine
28	chr5:61289000-61290000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:61289200-61289400	Enhancers	Gastric	stomach
30	chr5:61289200-61289600	Enhancers	HSMMtube	muscle
31	chr5:61289400-61289600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:61289400-61289800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:61289800-61290000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:61290000-61290800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:61290200-61291600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:61290400-61290600	Enhancers	NHDF-Ad	bronchial
37	chr5:61290800-61291000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:61291000-61291400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:61291200-61292000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:61291200-61293200	Enhancers	Fetal Intestine Large	intestine
41	chr5:61291400-61292200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:61291600-61292400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:61291800-61293400	Enhancers	Fetal Intestine Small	intestine
44	chr5:61292200-61292600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:61292600-61295400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:61293200-61294200	Weak transcription	Fetal Intestine Large	intestine
47	chr5:61293400-61294600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:61293400-61296200	Weak transcription	Fetal Intestine Small	intestine
49	chr5:61294200-61294800	Enhancers	Fetal Intestine Large	intestine
50	chr5:61294600-61298000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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