Variant report

Variant	nsv520560
Chromosome Location	chr2:77675884-77724557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:77697026..77699297-chr2:77719458..77722284,2	MCF-7	breast:
2	chr2:77671600..77674569-chr2:77675761..77678472,2	K562	blood:
3	chr2:77697026..77699297-chr2:77719458..77722284,2	MCF-7	breast:

Extended variants
information (count: 1507 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1507 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12990498	chr2:77675884-77675885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562344594	chr2:77675919-77675920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531213447	chr2:77675924-77675925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367906933	chr2:77675925-77675926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558032212	chr2:77675926-77675927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116597941	chr2:77676016-77676017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191135115	chr2:77676031-77676032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376245573	chr2:77676048-77676049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527455939	chr2:77676119-77676120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143254107	chr2:77676140-77676141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148292733	chr2:77676154-77676155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536145376	chr2:77676156-77676157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35056931	chr2:77676231-77676232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62162582	chr2:77676246-77676247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370336089	chr2:77676364-77676365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570018698	chr2:77676387-77676388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375245306	chr2:77676408-77676409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539041511	chr2:77676445-77676446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559056084	chr2:77676461-77676462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572592123	chr2:77676490-77676491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13387496	chr2:77676500-77676501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs13387293	chr2:77676504-77676505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs372662789	chr2:77676511-77676512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374383714	chr2:77676565-77676566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543713239	chr2:77676633-77676634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113449627	chr2:77676647-77676648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575598875	chr2:77676655-77676656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150485897	chr2:77676663-77676664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114393486	chr2:77676685-77676686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527371784	chr2:77676706-77676707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138513298	chr2:77676733-77676734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560921772	chr2:77676745-77676746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529901923	chr2:77676748-77676749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144045377	chr2:77676778-77676779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569979213	chr2:77676781-77676782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532519580	chr2:77676796-77676797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182277689	chr2:77676809-77676810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566121923	chr2:77676856-77676857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534807334	chr2:77676911-77676912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555050431	chr2:77676978-77676979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368548914	chr2:77676988-77676989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568524025	chr2:77677007-77677008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147297349	chr2:77677008-77677009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557203778	chr2:77677035-77677036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140437078	chr2:77677089-77677090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76888561	chr2:77677103-77677104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13002243	chr2:77677118-77677119	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs113274021	chr2:77677181-77677182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558119671	chr2:77677248-77677249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186944208	chr2:77677267-77677268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77675200-77676200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr2:77675400-77687000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:77675600-77676800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:77675800-77681400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:77676200-77681400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:77676600-77676800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr2:77676800-77677000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:77677000-77677800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:77677400-77677600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:77677800-77678800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:77678200-77678800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:77678800-77679200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:77678800-77679200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:77679200-77679600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:77679200-77679800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:77679600-77679800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:77681400-77681800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:77681400-77681800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:77681400-77681800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:77681800-77688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:77681800-77689000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:77683800-77685800	Enhancers	Fetal Heart	heart
23	chr2:77684600-77685200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:77684800-77690200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:77685000-77686200	Enhancers	Brain Anterior Caudate	brain
26	chr2:77685200-77688600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:77685800-77686800	Weak transcription	Fetal Heart	heart
28	chr2:77686200-77687000	Weak transcription	Brain Anterior Caudate	brain
29	chr2:77687000-77687200	Enhancers	Brain Germinal Matrix	brain
30	chr2:77687000-77687200	Enhancers	Fetal Heart	heart
31	chr2:77687000-77687400	Active TSS	Brain Hippocampus Middle	brain
32	chr2:77687000-77687600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:77687000-77687600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:77687000-77687600	Enhancers	Brain Angular Gyrus	brain
35	chr2:77687000-77687600	Active TSS	Brain Anterior Caudate	brain
36	chr2:77687000-77689200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:77687000-77689800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:77687200-77687400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:77687200-77687400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:77687200-77687600	Active TSS	NHLF	lung
41	chr2:77687200-77688800	Weak transcription	Brain Germinal Matrix	brain
42	chr2:77687400-77688800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:77687400-77689200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:77687600-77689000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:77688600-77688800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:77688600-77689600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:77688600-77690000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:77688800-77689600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:77688800-77689600	Enhancers	Brain Germinal Matrix	brain
50	chr2:77688800-77690000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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