Variant report

Variant	esv3367021
Chromosome Location	chr2:55931299-55931769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55843167..55845991-chr2:55928985..55931317,2	MCF-7	breast:
2	chr2:55923895..55927237-chr2:55928589..55931342,3	K562	blood:
3	chr2:55921422..55922945-chr2:55929842..55931481,2	K562	blood:
4	chr2:55929391..55931366-chr2:55933067..55934702,2	K562	blood:

Variant related genes	Relation type
ENSG00000272606	chromatin interactions
ENSG00000138041	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372820589	chr2:55931308-55931309	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs552347786	chr2:55931317-55931318	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574995925	chr2:55931328-55931329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377219773	chr2:55931358-55931359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72812159	chr2:55931359-55931360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563919683	chr2:55931387-55931388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532994230	chr2:55931388-55931389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116329213	chr2:55931424-55931425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560474602	chr2:55931428-55931429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567116745	chr2:55931429-55931430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201549130	chr2:55931430-55931431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376281553	chr2:55931439-55931440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78884127	chr2:55931440-55931441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529066337	chr2:55931445-55931446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549221826	chr2:55931456-55931457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568521453	chr2:55931461-55931462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548466421	chr2:55931488-55931489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190740189	chr2:55931508-55931509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142834045	chr2:55931519-55931520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151155505	chr2:55931544-55931545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185759157	chr2:55931568-55931569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527983383	chr2:55931586-55931587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559360311	chr2:55931588-55931589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140082218	chr2:55931602-55931603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190238017	chr2:55931616-55931617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576875798	chr2:55931631-55931632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145570615	chr2:55931647-55931648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555547533	chr2:55931655-55931656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575832935	chr2:55931694-55931695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55927000-55934600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:55930600-55931400	Enhancers	K562	blood
3	chr2:55931400-55932400	Weak transcription	K562	blood

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