Variant report

Variant	esv3400849
Chromosome Location	chr2:21222947-21225095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:21221740-21223654	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:21224093-21225979	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:21224805-21225133	HepG2	liver:	n/a	chr2:21224965-21224976
4	CEBPD	chr2:21223212-21223491	HepG2	liver:	n/a	n/a
5	CHD2	chr2:21224240-21224840	HepG2	liver:	n/a	n/a
6	CHD2	chr2:21221415-21223522	HepG2	liver:	n/a	n/a
7	CREB1	chr2:21221447-21223594	HepG2	liver:	n/a	n/a
8	CREB1	chr2:21221567-21223610	HepG2	liver:	n/a	n/a
9	ELF1	chr2:21222138-21223160	HepG2	liver:	n/a	n/a
10	EP300	chr2:21223123-21223444	HepG2	liver:	n/a	n/a
11	FOSL2	chr2:21224147-21225230	HepG2	liver:	n/a	n/a
12	FOSL2	chr2:21221646-21223578	HepG2	liver:	n/a	n/a
13	HEY1	chr2:21222010-21223563	HepG2	liver:	n/a	n/a
14	HEY1	chr2:21224133-21225263	HepG2	liver:	n/a	n/a
15	HEY1	chr2:21224107-21233145	HepG2	liver:	n/a	n/a
16	HEY1	chr2:21221773-21223590	HepG2	liver:	n/a	n/a
17	JUND	chr2:21224292-21224497	HepG2	liver:	n/a	n/a
18	JUND	chr2:21222008-21223584	HepG2	liver:	n/a	n/a
19	JUND	chr2:21223184-21223475	HepG2	liver:	n/a	n/a
20	MBD4	chr2:21221065-21223695	HepG2	liver:	n/a	n/a
21	MBD4	chr2:21224104-21238956	HepG2	liver:	n/a	n/a
22	MBD4	chr2:21224090-21233169	HepG2	liver:	n/a	n/a
23	MBD4	chr2:21221044-21223608	HepG2	liver:	n/a	n/a
24	MYBL2	chr2:21221257-21223673	HepG2	liver:	n/a	n/a
25	MYBL2	chr2:21223967-21226141	HepG2	liver:	n/a	n/a
26	MYBL2	chr2:21224101-21226174	HepG2	liver:	n/a	n/a
27	MYBL2	chr2:21221486-21223641	HepG2	liver:	n/a	n/a
28	NFIC	chr2:21221507-21223532	HepG2	liver:	n/a	n/a
29	NFIC	chr2:21224103-21224617	HepG2	liver:	n/a	n/a
30	NFIC	chr2:21221553-21223684	HepG2	liver:	n/a	n/a
31	NFIC	chr2:21224070-21224496	HepG2	liver:	n/a	n/a
32	NFIC	chr2:21224709-21225299	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:21220428-21223673	HepG2	liver:	n/a	n/a
34	POLR2A	chr2:21220703-21223640	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:21220178-21223637	HepG2	liver:	n/a	n/a
36	POLR2A	chr2:21221569-21223532	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:21221250-21223638	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:21220389-21223615	HepG2	liver:	n/a	n/a
39	POLR2A	chr2:21221646-21223579	HepG2	liver:	n/a	n/a
40	POLR2A	chr2:21224141-21226172	HepG2	liver:	n/a	n/a
41	POLR2A	chr2:21224065-21268658	HepG2	liver:	n/a	n/a
42	POLR2A	chr2:21224327-21224534	HepG2	liver:	n/a	n/a
43	POLR2A	chr2:21224019-21267588	HepG2	liver:	n/a	n/a
44	POLR2A	chr2:21224116-21239694	HepG2	liver:	n/a	n/a
45	POLR2A	chr2:21221953-21223125	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:21224183-21224297	HepG2	liver:	n/a	n/a
47	POLR2A	chr2:21222099-21223495	HepG2	liver:	n/a	n/a
48	POLR2A	chr2:21224144-21226208	HepG2	liver:	n/a	n/a
49	POLR2A	chr2:21224100-21267126	HepG2	liver:	n/a	n/a
50	POLR2A	chr2:21223137-21223533	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:21224463..21227068-chr2:21229153..21232894,3	K562	blood:
2	chr2:21224463..21226002-chr2:21230053..21232894,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APOB-1	chr2:21222185-21223789	ENSG00000261012.2
2	lnc-APOB-1	chr2:21222209-21223789	ENSG00000261012.1

No data

Variant related genes	Relation type
ENSG00000261012	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557243626	chr2:21222973-21222974	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs553783674	chr2:21223009-21223010	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs181564037	chr2:21223016-21223017	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs187012962	chr2:21223026-21223027	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs577867654	chr2:21223027-21223028	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs528122684	chr2:21223091-21223092	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs139067373	chr2:21223105-21223106	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs188792716	chr2:21223108-21223109	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs544596037	chr2:21223229-21223230	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs72654432	chr2:21223250-21223251	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530672558	chr2:21223306-21223307	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs550776156	chr2:21223333-21223334	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs567317077	chr2:21223351-21223352	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs529875261	chr2:21223353-21223354	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs549255441	chr2:21223361-21223362	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs11687484	chr2:21223404-21223405	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs368692460	chr2:21223406-21223407	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs72654431	chr2:21223415-21223416	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556265404	chr2:21223477-21223478	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs192264530	chr2:21223484-21223485	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs571991658	chr2:21223549-21223550	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs537705103	chr2:21223564-21223565	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs541601553	chr2:21223571-21223572	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs62122484	chr2:21223572-21223573	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184097009	chr2:21223579-21223580	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs536851253	chr2:21223591-21223592	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs552833503	chr2:21223592-21223593	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs142976002	chr2:21223601-21223602	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs72902544	chr2:21223608-21223609	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574115014	chr2:21223610-21223611	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs564513547	chr2:21223635-21223636	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs200876422	chr2:21223698-21223699	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs151025754	chr2:21223733-21223734	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs544207060	chr2:21223747-21223748	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs58411594	chr2:21223763-21223764	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs61400250	chr2:21223774-21223775	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs59939013	chr2:21223793-21223794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58657831	chr2:21223804-21223805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573783392	chr2:21223853-21223854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59380264	chr2:21223864-21223865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57437972	chr2:21223894-21223895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546730588	chr2:21223909-21223910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559889381	chr2:21223910-21223911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528567827	chr2:21223911-21223912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185235584	chr2:21223913-21223914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74173292	chr2:21223986-21223987	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs188563726	chr2:21224003-21224004	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs193231549	chr2:21224014-21224015	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs58406472	chr2:21224016-21224017	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs70939060	chr2:21224036-21224037	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21216400-21225600	Weak transcription	Aorta	Aorta
2	chr2:21220200-21225600	Weak transcription	Left Ventricle	heart
3	chr2:21220600-21224200	Weak transcription	HepG2	liver
4	chr2:21221000-21224400	Weak transcription	Fetal Intestine Small	intestine
5	chr2:21221600-21223200	Weak transcription	Liver	Liver
6	chr2:21221800-21224800	Weak transcription	Fetal Intestine Large	intestine
7	chr2:21222800-21234600	Weak transcription	Adipose Nuclei	Adipose
8	chr2:21223000-21223200	Enhancers	Brain Substantia Nigra	brain
9	chr2:21223200-21245600	Strong transcription	Liver	Liver
10	chr2:21224200-21227200	Strong transcription	HepG2	liver
11	chr2:21224400-21224600	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr2:21224400-21229000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:21224800-21226000	Strong transcription	Fetal Intestine Large	intestine

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