Variant report

Variant	esv11312
Chromosome Location	chr2:21442627-21443130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr2:21442812-21443130	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000233005	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536463337	chr2:21442627-21442628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs426353	chr2:21442635-21442636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566259897	chr2:21442639-21442640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538330629	chr2:21442644-21442645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60073563	chr2:21442665-21442666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201633860	chr2:21442666-21442667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199633227	chr2:21442667-21442668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138698133	chr2:21442668-21442669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372915583	chr2:21442669-21442670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2666014	chr2:21442675-21442676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192371511	chr2:21442677-21442678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554573987	chr2:21442702-21442703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557800897	chr2:21442730-21442731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs412255	chr2:21442733-21442734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs3106202	chr2:21442855-21442856	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs34835946	chr2:21442881-21442882	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs560365901	chr2:21442941-21442942	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs115449960	chr2:21442943-21442944	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs6146672	chr2:21442945-21442946	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs185634685	chr2:21442947-21442948	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs545170113	chr2:21442951-21442952	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs58881317	chr2:21442959-21442960	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs192248038	chr2:21442960-21442961	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs2879065	chr2:21442962-21442963	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs2337899	chr2:21442963-21442964	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs565336278	chr2:21442993-21442994	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs34340041	chr2:21443010-21443011	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550919535	chr2:21443041-21443042	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs559683193	chr2:21443063-21443064	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs454826	chr2:21443090-21443091	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs430872	chr2:21443112-21443113	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21435600-21445400	Weak transcription	Right Atrium	heart
2	chr2:21440800-21443400	Weak transcription	Duodenum Mucosa	Duodenum

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