Variant report

Variant	nsv1008460
Chromosome Location	chr2:76928121-76949552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1518 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1518 , 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	rs564783011	chr2:76928128-76928129	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190589136	chr2:76928137-76928138	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151212470	chr2:76928147-76928148	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17013044	chr2:76928166-76928167	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577770947	chr2:76928170-76928171	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368282396	chr2:76928190-76928191	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550690802	chr2:76928201-76928202	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13394764	chr2:76928219-76928220	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533171684	chr2:76928263-76928264	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558196267	chr2:76928273-76928274	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566765668	chr2:76928314-76928315	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71374395	chr2:76928338-76928339	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72459576	chr2:76928339-76928340	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs397690315	chr2:76928344-76928345	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533710777	chr2:76928405-76928406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140319039	chr2:76928409-76928410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543959002	chr2:76928410-76928411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73939400	chr2:76928466-76928467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150336867	chr2:76928491-76928492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146820321	chr2:76928504-76928505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577674872	chr2:76928519-76928520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545041809	chr2:76928520-76928521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73939401	chr2:76928537-76928538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs574121832	chr2:76928545-76928546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573490975	chr2:76928546-76928547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540608564	chr2:76928584-76928585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562303417	chr2:76928594-76928595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529498613	chr2:76928596-76928597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541704817	chr2:76928604-76928605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559799920	chr2:76928640-76928641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562664196	chr2:76928654-76928655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140634246	chr2:76928670-76928671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551373065	chr2:76928675-76928676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566794682	chr2:76928681-76928682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527582891	chr2:76928705-76928706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557538510	chr2:76928710-76928711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549033288	chr2:76928738-76928739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71374396	chr2:76928741-76928742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58645030	chr2:76928742-76928743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386390519	chr2:76928743-76928744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397770788	chr2:76928746-76928747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112387720	chr2:76928747-76928748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567429364	chr2:76928774-76928775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183194752	chr2:76928785-76928786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12471861	chr2:76928790-76928791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12467521	chr2:76928797-76928798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs546522852	chr2:76928803-76928804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571367173	chr2:76928811-76928812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531286382	chr2:76928833-76928834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553718833	chr2:76928843-76928844	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76927800-76928400	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:76928000-76928400	Enhancers	Fetal Heart	heart
3	chr2:76928400-76934800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:76934800-76935200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:76934800-76936000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr2:76935200-76949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:76936000-76938600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:76937000-76937200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:76938400-76939000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:76938400-76939400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:76938600-76939000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:76938600-76939200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:76939000-76947800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:76944000-76944200	Enhancers	Pancreatic Islets	Pancreatic Islet

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