Variant report

Variant	nsv598941
Chromosome Location	chr5:92557969-92595939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:92572759..92575011-chr5:92577902..92579568,2	MCF-7	breast:
2	chr5:92572759..92575011-chr5:92577902..92579568,2	MCF-7	breast:
3	chr5:92245272..92245812-chr5:92587648..92588348,2	MCF-7	breast:

Extended variants
information (count: 868 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:868 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12652645	chr5:92557969-92557970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375423112	chr5:92557987-92557988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376607845	chr5:92558137-92558138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543449566	chr5:92558146-92558147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562933198	chr5:92558147-92558148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531938805	chr5:92558177-92558178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140015002	chr5:92558180-92558181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142079912	chr5:92558189-92558190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551127250	chr5:92558198-92558199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17083014	chr5:92558213-92558214	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs146331278	chr5:92558247-92558248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576872510	chr5:92558284-92558285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148522446	chr5:92558324-92558325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536937469	chr5:92558442-92558443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142929006	chr5:92558466-92558467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190074886	chr5:92558470-92558471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182857726	chr5:92558471-92558472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559107264	chr5:92558504-92558505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17083016	chr5:92558518-92558519	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs66614167	chr5:92558553-92558554	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs151081442	chr5:92558555-92558556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187490848	chr5:92558615-92558616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543765831	chr5:92558624-92558625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563591003	chr5:92558628-92558629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576449094	chr5:92558707-92558708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536290641	chr5:92558734-92558735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545380046	chr5:92558736-92558737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553085325	chr5:92558811-92558812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192673656	chr5:92558815-92558816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528172317	chr5:92558819-92558820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185675490	chr5:92558842-92558843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78115658	chr5:92558895-92558896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530684427	chr5:92558921-92558922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550917139	chr5:92558935-92558936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570724438	chr5:92558982-92558983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532584389	chr5:92559053-92559054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552583430	chr5:92559083-92559084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566211307	chr5:92559112-92559113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545132478	chr5:92559165-92559166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17367646	chr5:92559173-92559174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144904615	chr5:92559200-92559201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187756989	chr5:92559216-92559217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537218717	chr5:92559294-92559295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192261534	chr5:92559348-92559349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184201902	chr5:92559365-92559366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67217436	chr5:92559372-92559373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577102679	chr5:92559404-92559405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188563044	chr5:92559485-92559486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181183954	chr5:92559518-92559519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572757981	chr5:92559523-92559524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	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
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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92555800-92561600	Weak transcription	Ovary	ovary
2	chr5:92556400-92562200	Weak transcription	Fetal Lung	lung
3	chr5:92558000-92558600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:92558000-92558600	Enhancers	Adipose Nuclei	Adipose
5	chr5:92560200-92561600	Enhancers	HepG2	liver
6	chr5:92561000-92561800	Enhancers	Brain Hippocampus Middle	brain
7	chr5:92561200-92561800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:92561200-92561800	Enhancers	Brain Substantia Nigra	brain
9	chr5:92561200-92562400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:92561200-92562800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:92561400-92562600	Enhancers	Brain Anterior Caudate	brain
12	chr5:92561600-92562400	Enhancers	Ovary	ovary
13	chr5:92561600-92562600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:92561800-92562800	Enhancers	NHDF-Ad	bronchial
15	chr5:92562000-92562600	Enhancers	Colon Smooth Muscle	Colon
16	chr5:92562200-92562600	Enhancers	Fetal Lung	lung
17	chr5:92570800-92573000	Enhancers	Hela-S3	cervix
18	chr5:92572400-92573000	Enhancers	NHLF	lung
19	chr5:92572400-92573200	Enhancers	HMEC	breast
20	chr5:92572400-92573600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:92572400-92573600	Enhancers	NHEK	skin
22	chr5:92572600-92573000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:92572600-92573000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:92572600-92573000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:92572600-92573000	Enhancers	NH-A	brain
26	chr5:92573000-92573400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:92573000-92579000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:92573000-92581000	Weak transcription	NHLF	lung
29	chr5:92573400-92573600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:92573600-92581000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:92573600-92585400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:92577400-92578000	Enhancers	Fetal Kidney	kidney
33	chr5:92577400-92578200	Enhancers	Fetal Lung	lung
34	chr5:92577600-92577800	Enhancers	Fetal Stomach	stomach
35	chr5:92578000-92578200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:92578000-92578800	Weak transcription	Fetal Kidney	kidney
37	chr5:92578200-92578600	Weak transcription	Fetal Lung	lung
38	chr5:92578200-92579000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:92578600-92579400	Weak transcription	Fetal Stomach	stomach
40	chr5:92578600-92579800	Enhancers	Fetal Lung	lung
41	chr5:92578800-92579600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:92578800-92579600	Enhancers	Fetal Kidney	kidney
43	chr5:92578800-92579800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:92578800-92579800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:92578800-92579800	Enhancers	HUVEC	blood vessel
46	chr5:92578800-92584000	Enhancers	HepG2	liver
47	chr5:92579000-92579200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr5:92579000-92579800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:92579000-92579800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:92579000-92581000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links