Variant report

Variant	esv3353986
Chromosome Location	chr2:54571567-54572001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54570097..54573126-chr2:54573916..54576367,3	K562	blood:
2	chr2:54569839..54572791-chr2:54629016..54630836,2	K562	blood:
3	chr2:54560405..54562674-chr2:54570057..54572627,2	MCF-7	breast:
4	chr2:54570432..54573126-chr2:54574195..54576367,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569705268	chr2:54571578-54571579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7566809	chr2:54571607-54571608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs76506866	chr2:54571625-54571626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558828776	chr2:54571626-54571627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7566819	chr2:54571636-54571637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs73933628	chr2:54571654-54571655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11125530	chr2:54571656-54571657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs193287567	chr2:54571734-54571735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139653286	chr2:54571796-54571797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565565726	chr2:54571827-54571828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185422174	chr2:54571835-54571836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80050489	chr2:54571852-54571853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112578436	chr2:54571853-54571854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs67283948	chr2:54571854-54571855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386390207	chr2:54571856-54571857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201263501	chr2:54571857-54571858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56400157	chr2:54571859-54571860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13026765	chr2:54571909-54571910	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs561118704	chr2:54571930-54571931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190329131	chr2:54571995-54571996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54558800-54574800	Weak transcription	Left Ventricle	heart
2	chr2:54568600-54572000	Enhancers	Fetal Heart	heart
3	chr2:54569400-54587200	Weak transcription	Fetal Brain Male	brain
4	chr2:54570000-54574800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:54570000-54575200	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:54572000-54574400	Weak transcription	Fetal Heart	heart

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