Variant report

Variant	nsv963150
Chromosome Location	chr2:56677451-56682246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 199 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550511285	chr2:56677460-56677461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570349504	chr2:56677481-56677482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371905044	chr2:56677539-56677540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192225072	chr2:56677555-56677556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10174257	chr2:56677556-56677557	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542437257	chr2:56677581-56677582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10209137	chr2:56677613-56677614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564771466	chr2:56677624-56677625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534858795	chr2:56677628-56677629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10209142	chr2:56677632-56677633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59124481	chr2:56677672-56677673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183903481	chr2:56677715-56677716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149921035	chr2:56677719-56677720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557685098	chr2:56677767-56677768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188541656	chr2:56677822-56677823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77070364	chr2:56677831-56677832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559852065	chr2:56677832-56677833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556754932	chr2:56677834-56677835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542001085	chr2:56677842-56677843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546930624	chr2:56677847-56677848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531751841	chr2:56677858-56677859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561875493	chr2:56677957-56677958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530779291	chr2:56678037-56678038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73942440	chr2:56678056-56678057	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564440127	chr2:56678067-56678068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368783121	chr2:56678077-56678078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181347372	chr2:56678095-56678096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546207502	chr2:56678096-56678097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548357008	chr2:56678126-56678127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560571515	chr2:56678133-56678134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145250898	chr2:56678145-56678146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545657078	chr2:56678153-56678154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548706387	chr2:56678196-56678197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529403393	chr2:56678239-56678240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548446424	chr2:56678260-56678261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571885743	chr2:56678329-56678330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71414590	chr2:56678342-56678343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34715521	chr2:56678359-56678360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141297379	chr2:56678360-56678361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577484531	chr2:56678401-56678402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568245421	chr2:56678411-56678412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539816029	chr2:56678418-56678419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553405988	chr2:56678463-56678464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573334906	chr2:56678484-56678485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542334110	chr2:56678534-56678535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184354245	chr2:56678550-56678551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116212172	chr2:56678556-56678557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143635440	chr2:56678557-56678558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564195822	chr2:56678560-56678561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533256158	chr2:56678588-56678589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56674400-56678200	Enhancers	Fetal Intestine Large	intestine
2	chr2:56675000-56677800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:56675000-56677800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:56675200-56678000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:56675400-56678200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:56675400-56679200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:56676000-56682800	Weak transcription	Pancreas	Pancrea
8	chr2:56676600-56677800	Enhancers	Fetal Kidney	kidney
9	chr2:56676800-56677800	Enhancers	Fetal Intestine Small	intestine
10	chr2:56677000-56678000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:56677000-56678000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:56677000-56678200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:56677000-56678200	Enhancers	A549	lung
14	chr2:56677200-56678000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:56677400-56677600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:56677600-56677800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:56678000-56678200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:56678000-56678200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:56679200-56679400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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