Variant report

Variant	nsv582257
Chromosome Location	chr2:77681802-77721110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:77697026..77699297-chr2:77719458..77722284,2	MCF-7	breast:
2	chr2:77697026..77699297-chr2:77719458..77722284,2	MCF-7	breast:

Extended variants
information (count: 1279 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1279 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4561696	chr2:77681802-77681803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190730575	chr2:77681891-77681892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10186352	chr2:77681940-77681941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553488115	chr2:77681945-77681946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151287051	chr2:77681959-77681960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570141156	chr2:77681969-77681970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529370671	chr2:77682041-77682042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539166463	chr2:77682051-77682052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192199177	chr2:77682107-77682108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558872947	chr2:77682167-77682168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140494802	chr2:77682168-77682169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541315633	chr2:77682171-77682172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111620509	chr2:77682237-77682238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573529670	chr2:77682250-77682251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147661796	chr2:77682345-77682346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116189930	chr2:77682351-77682352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76326626	chr2:77682425-77682426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373088101	chr2:77682438-77682439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565917075	chr2:77682442-77682443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544754042	chr2:77682465-77682466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184631188	chr2:77682530-77682531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146908877	chr2:77682531-77682532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34634190	chr2:77682537-77682538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376180963	chr2:77682563-77682564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547342763	chr2:77682568-77682569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377418581	chr2:77682585-77682586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369544078	chr2:77682618-77682619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189546577	chr2:77682623-77682624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530043735	chr2:77682628-77682629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181392958	chr2:77682657-77682658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570102450	chr2:77682715-77682716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539131533	chr2:77682718-77682719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559013268	chr2:77682732-77682733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566099889	chr2:77682735-77682736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139308220	chr2:77682812-77682813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77272051	chr2:77682820-77682821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35752939	chr2:77682852-77682853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148981515	chr2:77682867-77682868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77355326	chr2:77682870-77682871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555737921	chr2:77682871-77682872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575637950	chr2:77682889-77682890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111979463	chr2:77682927-77682928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143761664	chr2:77682974-77682975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111798807	chr2:77682976-77682977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114032184	chr2:77682984-77682985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34398894	chr2:77682993-77682994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113149007	chr2:77683034-77683035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541196840	chr2:77683037-77683038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148018335	chr2:77683048-77683049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141674311	chr2:77683097-77683098	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:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77675400-77687000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:77681800-77688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:77681800-77689000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:77683800-77685800	Enhancers	Fetal Heart	heart
5	chr2:77684600-77685200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:77684800-77690200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:77685000-77686200	Enhancers	Brain Anterior Caudate	brain
8	chr2:77685200-77688600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:77685800-77686800	Weak transcription	Fetal Heart	heart
10	chr2:77686200-77687000	Weak transcription	Brain Anterior Caudate	brain
11	chr2:77687000-77687200	Enhancers	Brain Germinal Matrix	brain
12	chr2:77687000-77687200	Enhancers	Fetal Heart	heart
13	chr2:77687000-77687400	Active TSS	Brain Hippocampus Middle	brain
14	chr2:77687000-77687600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:77687000-77687600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:77687000-77687600	Enhancers	Brain Angular Gyrus	brain
17	chr2:77687000-77687600	Active TSS	Brain Anterior Caudate	brain
18	chr2:77687000-77689200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:77687000-77689800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:77687200-77687400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:77687200-77687400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:77687200-77687600	Active TSS	NHLF	lung
23	chr2:77687200-77688800	Weak transcription	Brain Germinal Matrix	brain
24	chr2:77687400-77688800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:77687400-77689200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:77687600-77689000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:77688600-77688800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:77688600-77689600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:77688600-77690000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:77688800-77689600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:77688800-77689600	Enhancers	Brain Germinal Matrix	brain
32	chr2:77688800-77690000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:77688800-77690000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:77689000-77689400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:77689000-77689400	Enhancers	Fetal Brain Male	brain
36	chr2:77689000-77690000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:77689000-77690000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:77689200-77690000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:77689200-77692800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:77689400-77690000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:77689400-77693000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:77689600-77690000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:77689600-77693200	Weak transcription	Brain Germinal Matrix	brain
44	chr2:77689800-77693000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:77690200-77693000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:77691200-77692600	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr2:77692400-77692600	Active TSS	Brain Hippocampus Middle	brain
48	chr2:77692600-77692800	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr2:77692600-77693000	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:77692600-77693200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links