Variant report

Variant	esv3457799
Chromosome Location	chr2:58539250-58539685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534769321	chr2:58539261-58539262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs554674776	chr2:58539281-58539282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs568792661	chr2:58539283-58539284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs536295721	chr2:58539294-58539295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548134435	chr2:58539321-58539322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs34286598	chr2:58539322-58539323	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184624102	chr2:58539326-58539327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs559129076	chr2:58539337-58539338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs188209692	chr2:58539339-58539340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs191860690	chr2:58539351-58539352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556937061	chr2:58539365-58539366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149936649	chr2:58539366-58539367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs373537683	chr2:58539373-58539374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs560680674	chr2:58539374-58539375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs377434350	chr2:58539426-58539427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113500189	chr2:58539427-58539428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564969344	chr2:58539455-58539456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532206792	chr2:58539456-58539457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374204444	chr2:58539472-58539473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201147381	chr2:58539492-58539493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376012546	chr2:58539516-58539517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562448192	chr2:58539523-58539524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529899318	chr2:58539524-58539525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371012448	chr2:58539531-58539532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548582306	chr2:58539534-58539535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112932663	chr2:58539563-58539564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62141887	chr2:58539568-58539569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534177292	chr2:58539585-58539586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552424786	chr2:58539600-58539601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570915676	chr2:58539605-58539606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538487160	chr2:58539624-58539625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556746970	chr2:58539632-58539633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543942123	chr2:58539653-58539654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114480541	chr2:58539667-58539668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58537200-58539400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:58539400-58540200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links