Variant report

Variant	nsv1014267
Chromosome Location	chr2:77656084-77687284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:77661025..77662902-chr2:77665526..77668162,2	K562	blood:
2	chr2:77671600..77674569-chr2:77675761..77678472,2	K562	blood:
3	chr2:77661025..77662902-chr2:77665526..77668162,2	K562	blood:
4	chr2:77671600..77674569-chr2:77675761..77678472,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG1B-9	chr2:77673449-77673953	NONHSAT071826

Extended variants
information (count: 693 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:693 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565861304	chr2:77658418-77658419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534553474	chr2:77658421-77658422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375758969	chr2:77658440-77658441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183245308	chr2:77658445-77658446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533172487	chr2:77658504-77658505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76276531	chr2:77658509-77658510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537412982	chr2:77658510-77658511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369591990	chr2:77658512-77658513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201787504	chr2:77658604-77658605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80240029	chr2:77658638-77658639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577345712	chr2:77658651-77658652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62162579	chr2:77658945-77658946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553238330	chr2:77658951-77658952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573377070	chr2:77658962-77658963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372492052	chr2:77658977-77658978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530807927	chr2:77659010-77659011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542069445	chr2:77659017-77659018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112712454	chr2:77659020-77659021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548919751	chr2:77659026-77659027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550841598	chr2:77659056-77659057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187912070	chr2:77659057-77659058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58689617	chr2:77659099-77659100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139925022	chr2:77659104-77659105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532024982	chr2:77659193-77659194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552237672	chr2:77659223-77659224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565645665	chr2:77659234-77659235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528242601	chr2:77659262-77659263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191321343	chr2:77659265-77659266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369757820	chr2:77659267-77659268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534953527	chr2:77659280-77659281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537326243	chr2:77659297-77659298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372699026	chr2:77659311-77659312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183853996	chr2:77659394-77659395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570143271	chr2:77659404-77659405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80044780	chr2:77659438-77659439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72811219	chr2:77659449-77659450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573262153	chr2:77659461-77659462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542384085	chr2:77659471-77659472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542786618	chr2:77659472-77659473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112889228	chr2:77659486-77659487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555559560	chr2:77659526-77659527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575459306	chr2:77659558-77659559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369511644	chr2:77659567-77659568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149995210	chr2:77659588-77659589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145185338	chr2:77659600-77659601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188619196	chr2:77659601-77659602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149226555	chr2:77659626-77659627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192973422	chr2:77659635-77659636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548300219	chr2:77659682-77659683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116068694	chr2:77659685-77659686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77658400-77662000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:77659800-77660400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:77662000-77662400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:77662200-77662400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr2:77669200-77670400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:77675200-77675400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:77675200-77675600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:77675200-77675600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:77675200-77675600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:77675200-77675600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:77675200-77675600	Enhancers	Fetal Brain Female	brain
12	chr2:77675200-77675800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:77675200-77676200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:77675400-77687000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:77675600-77676800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:77675800-77681400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:77676200-77681400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:77676600-77676800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:77676800-77677000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:77677000-77677800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:77677400-77677600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr2:77677800-77678800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:77678200-77678800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:77678800-77679200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:77678800-77679200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:77679200-77679600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:77679200-77679800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:77679600-77679800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:77681400-77681800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:77681400-77681800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:77681400-77681800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:77681800-77688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:77681800-77689000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:77683800-77685800	Enhancers	Fetal Heart	heart
35	chr2:77684600-77685200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:77684800-77690200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:77685000-77686200	Enhancers	Brain Anterior Caudate	brain
38	chr2:77685200-77688600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:77685800-77686800	Weak transcription	Fetal Heart	heart
40	chr2:77686200-77687000	Weak transcription	Brain Anterior Caudate	brain
41	chr2:77687000-77687200	Enhancers	Brain Germinal Matrix	brain
42	chr2:77687000-77687200	Enhancers	Fetal Heart	heart
43	chr2:77687000-77687400	Active TSS	Brain Hippocampus Middle	brain
44	chr2:77687000-77687600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:77687000-77687600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:77687000-77687600	Enhancers	Brain Angular Gyrus	brain
47	chr2:77687000-77687600	Active TSS	Brain Anterior Caudate	brain
48	chr2:77687000-77689200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:77687000-77689800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:77687200-77687400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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