Variant report

Variant	esv2474094
Chromosome Location	chr2:53365324-53366794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53363717..53366241-chr2:53367995..53370681,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548009297	chr2:53365331-53365332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529610704	chr2:53365369-53365370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113127301	chr2:53365370-53365371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72906098	chr2:53365380-53365381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112232827	chr2:53365413-53365414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192235083	chr2:53365442-53365443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117622866	chr2:53365453-53365454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551978124	chr2:53365509-53365510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565506417	chr2:53365529-53365530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367685491	chr2:53365540-53365541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373221509	chr2:53365554-53365555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369830942	chr2:53365616-53365617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374015498	chr2:53365620-53365621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146065470	chr2:53365684-53365685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554720713	chr2:53365701-53365702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574787867	chr2:53365702-53365703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377730596	chr2:53365703-53365704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567843761	chr2:53365710-53365711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537091357	chr2:53365716-53365717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72906100	chr2:53365719-53365720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184390957	chr2:53365722-53365723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377072557	chr2:53365731-53365732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546503405	chr2:53365753-53365754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549008234	chr2:53365800-53365801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370145760	chr2:53365803-53365804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371677942	chr2:53365820-53365821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189723096	chr2:53365860-53365861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541123266	chr2:53365966-53365967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181281065	chr2:53365986-53365987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201730608	chr2:53365992-53365993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185915629	chr2:53366003-53366004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543094531	chr2:53366114-53366115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562919343	chr2:53366129-53366130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10203648	chr2:53366159-53366160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552027310	chr2:53366165-53366166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189367388	chr2:53366182-53366183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528234145	chr2:53366204-53366205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10168853	chr2:53366214-53366215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568509810	chr2:53366267-53366268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182305340	chr2:53366273-53366274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186552050	chr2:53366277-53366278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113067693	chr2:53366279-53366280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191106681	chr2:53366305-53366306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374139923	chr2:53366352-53366353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369827047	chr2:53366383-53366384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368325884	chr2:53366392-53366393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71408705	chr2:53366406-53366407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553655995	chr2:53366421-53366422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573393437	chr2:53366443-53366444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9677296	chr2:53366444-53366445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53362800-53368000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:53365200-53365600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links