Variant report

Variant	esv3442930
Chromosome Location	chr2:21205632-21205966
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	chr2:21203233..21206131-chr2:21209365..21210977,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72890789	chr2:21205653-21205654	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562577992	chr2:21205678-21205679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374082988	chr2:21205705-21205706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571411031	chr2:21205760-21205761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530619287	chr2:21205777-21205778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78139328	chr2:21205796-21205797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567225541	chr2:21205818-21205819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376036789	chr2:21205842-21205843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115718138	chr2:21205889-21205890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35131127	chr2:21205914-21205915	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566408650	chr2:21205915-21205916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62120847	chr2:21205920-21205921	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21200000-21206400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:21200200-21207000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:21201200-21206400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:21201400-21205800	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:21203800-21206800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:21204800-21207000	Enhancers	Fetal Muscle Trunk	muscle
7	chr2:21205200-21206800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:21205400-21206000	Enhancers	Fetal Kidney	kidney
9	chr2:21205600-21208600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:21205800-21206200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:21205800-21207400	Enhancers	Fetal Muscle Leg	muscle

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