Variant report

Variant	esv11873
Chromosome Location	chr2:21611318-21612150
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	chr2:21609330..21611613-chr2:21622342..21624204,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563496976	chr2:21611321-21611322	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529469348	chr2:21611337-21611338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374704541	chr2:21611346-21611347	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77240354	chr2:21611365-21611366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12616733	chr2:21611378-21611379	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11125982	chr2:21611403-21611404	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551750031	chr2:21611422-21611423	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571593667	chr2:21611449-21611450	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76028349	chr2:21611509-21611510	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73919233	chr2:21611529-21611530	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11125983	chr2:21611530-21611531	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536434601	chr2:21611545-21611546	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149154030	chr2:21611572-21611573	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573087582	chr2:21611579-21611580	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545013489	chr2:21611593-21611594	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558484836	chr2:21611609-21611610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs372349579	chr2:21611661-21611662	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs12614275	chr2:21611734-21611735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs575137944	chr2:21611741-21611742	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs57680959	chr2:21611765-21611766	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs202052455	chr2:21611767-21611768	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs386643913	chr2:21611769-21611770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs66949321	chr2:21611770-21611771	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs143552255	chr2:21611869-21611870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529773738	chr2:21611873-21611874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111952132	chr2:21611889-21611890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17042250	chr2:21611910-21611911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs528773088	chr2:21611922-21611923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138156599	chr2:21611951-21611952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72910120	chr2:21611983-21611984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530942349	chr2:21611989-21611990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186563120	chr2:21612020-21612021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567738429	chr2:21612094-21612095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6717828	chr2:21612150-21612151	Weak transcription	n/a	n/a	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21582000-21634600	Weak transcription	Aorta	Aorta
2	chr2:21611200-21611800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:21611400-21611600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:21611400-21611600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:21611400-21611600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:21611600-21612800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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