Variant report

Variant	nsv2789
Chromosome Location	chr2:77339890-77384267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1038 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559885381	chr2:77339937-77339938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76736100	chr2:77339980-77339981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370912632	chr2:77340007-77340008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548549275	chr2:77340011-77340012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563464313	chr2:77340053-77340054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530856130	chr2:77340058-77340059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113469666	chr2:77340063-77340064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556559706	chr2:77340073-77340074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534463748	chr2:77340088-77340089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562008251	chr2:77340101-77340102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546335132	chr2:77340128-77340129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148346018	chr2:77340131-77340132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59783376	chr2:77340153-77340154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556893238	chr2:77340161-77340162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544151855	chr2:77340168-77340169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575101274	chr2:77340208-77340209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537762042	chr2:77340224-77340225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12997735	chr2:77340242-77340243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs372320148	chr2:77340308-77340309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76145509	chr2:77340314-77340315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113845437	chr2:77340338-77340339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577563208	chr2:77340346-77340347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201881126	chr2:77340362-77340363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375636632	chr2:77340381-77340382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541636543	chr2:77340383-77340384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370088948	chr2:77340384-77340385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560687898	chr2:77340385-77340386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553540680	chr2:77340407-77340408	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150321279	chr2:77340416-77340417	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111466746	chr2:77340426-77340427	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs137908661	chr2:77340530-77340531	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563718129	chr2:77340534-77340535	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530772023	chr2:77340545-77340546	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372250270	chr2:77340563-77340564	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374641623	chr2:77340567-77340568	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188683565	chr2:77340570-77340571	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369001457	chr2:77340571-77340572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564035350	chr2:77340572-77340573	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372731908	chr2:77340579-77340580	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528310053	chr2:77340582-77340583	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377151045	chr2:77340584-77340585	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369367917	chr2:77340585-77340586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373624976	chr2:77340588-77340589	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376834274	chr2:77340592-77340593	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75428077	chr2:77340647-77340648	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567841989	chr2:77340650-77340651	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529003625	chr2:77340767-77340768	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550367510	chr2:77340775-77340776	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546803648	chr2:77340825-77340826	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142302135	chr2:77340826-77340827	Strong transcription ZNF genes & repeats Weak transcription Enhancers	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77323000-77341200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:77325600-77340400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:77327600-77341000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:77329600-77340600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:77330400-77341200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:77332000-77342200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:77339400-77340000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr2:77340000-77340200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:77340200-77342000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:77340400-77341600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:77340600-77340800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:77340600-77341000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:77340600-77343400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr2:77340800-77341400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:77341000-77341600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:77341200-77341600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
17	chr2:77341200-77342400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr2:77341600-77344600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:77341600-77345000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:77341600-77351800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:77343400-77351800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:77348200-77348800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr2:77348400-77349000	Enhancers	Liver	Liver
24	chr2:77356400-77357200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr2:77361000-77362600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:77363200-77363600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr2:77369200-77369600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:77374200-77374800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:77374400-77374800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:77374600-77375000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr2:77375000-77376600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:77376600-77377000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr2:77376800-77377000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:77376800-77377000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:77377000-77377200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:77377000-77380400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:77377000-77384800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:77377200-77388000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:77380200-77380400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:77380400-77381000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr2:77380400-77382600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:77381000-77388200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:77382000-77383000	Enhancers	Fetal Kidney	kidney
44	chr2:77382800-77383000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:77383000-77383600	Weak transcription	Fetal Kidney	kidney
46	chr2:77383400-77388200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:77383800-77384000	Enhancers	Fetal Kidney	kidney

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