Variant report

Variant	esv3426994
Chromosome Location	chr2:56615848-56617796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146851153	chr2:56615861-56615862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527792993	chr2:56615874-56615875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190932928	chr2:56615915-56615916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28534795	chr2:56615946-56615947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576568870	chr2:56615962-56615963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183390230	chr2:56615967-56615968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187467862	chr2:56615979-56615980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192696993	chr2:56615980-56615981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139226122	chr2:56615998-56615999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576957260	chr2:56616031-56616032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565722129	chr2:56616038-56616039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546151762	chr2:56616058-56616059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559664335	chr2:56616084-56616085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534410951	chr2:56616100-56616101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554286243	chr2:56616108-56616109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60097858	chr2:56616122-56616123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536475306	chr2:56616165-56616166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541862197	chr2:56616172-56616173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13426375	chr2:56616204-56616205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2869810	chr2:56616218-56616219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371554272	chr2:56616235-56616236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184541158	chr2:56616250-56616251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572518580	chr2:56616252-56616253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368812391	chr2:56616259-56616260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140932250	chr2:56616276-56616277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541526570	chr2:56616294-56616295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561399126	chr2:56616301-56616302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529890011	chr2:56616329-56616330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543270184	chr2:56616351-56616352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563559173	chr2:56616362-56616363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532308586	chr2:56616372-56616373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142094392	chr2:56616373-56616374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115990361	chr2:56616406-56616407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528108333	chr2:56616410-56616411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188179845	chr2:56616443-56616444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191828366	chr2:56616445-56616446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13426773	chr2:56616454-56616455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536413432	chr2:56616469-56616470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556486327	chr2:56616486-56616487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570280904	chr2:56616532-56616533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184220005	chr2:56616550-56616551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564560872	chr2:56616553-56616554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559240141	chr2:56616554-56616555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572451783	chr2:56616579-56616580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7606024	chr2:56616595-56616596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569722961	chr2:56616653-56616654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72618680	chr2:56616697-56616698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs574999411	chr2:56616717-56616718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543557237	chr2:56616754-56616755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563336372	chr2:56616769-56616770	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56612200-56617200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:56617000-56619200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:56617600-56618200	Enhancers	HUVEC	blood vessel

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