Variant report

Variant	esv3449615
Chromosome Location	chr2:87100846-87123828
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	BRCA1	chr2:87101965-87102433	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr2:87115244-87115439	K562	blood:	n/a	n/a
3	CEBPB	chr2:87115240-87115599	A549	lung:	n/a	n/a
4	CEBPB	chr2:87115235-87115769	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr2:87104375-87104398	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:87113449-87113470	GM13977	blood:	n/a	n/a
7	CTCF	chr2:87121271-87121380	GM10248	blood:	n/a	n/a
8	CTCF	chr2:87114715-87114818	GM20000	blood:	n/a	n/a
9	EP300	chr2:87102332-87102444	K562	blood:	n/a	n/a
10	FOS	chr2:87115242-87115442	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr2:87106144-87106346	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr2:87115401-87115582	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:87115549-87115747	MCF10A-Er-Src	breast:	n/a	chr2:87115616-87115624 chr2:87115617-87115624 chr2:87115616-87115624
14	FOSL2	chr2:87110067-87110336	HepG2	liver:	n/a	n/a
15	FOXA1	chr2:87115968-87116429	HepG2	liver:	n/a	n/a
16	FOXA1	chr2:87109935-87110572	HepG2	liver:	n/a	chr2:87110459-87110471
17	FOXA1	chr2:87121193-87121735	HepG2	liver:	n/a	n/a
18	HEY1	chr2:87109266-87109488	K562	blood:	n/a	n/a
19	IRF4	chr2:87113132-87113495	GM12878	blood:	n/a	n/a
20	MAFF	chr2:87102084-87102424	HepG2	liver:	n/a	n/a
21	MAFF	chr2:87102211-87102411	K562	blood:	n/a	n/a
22	MAFK	chr2:87102057-87102417	HepG2	liver:	n/a	n/a
23	MXI1	chr2:87104918-87105221	GM12878	blood:	n/a	n/a
24	MYBL2	chr2:87109982-87110535	HepG2	liver:	n/a	n/a
25	PAX5	chr2:87118492-87118807	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:87108578-87108737	ProgFib	skin:	n/a	n/a
27	POLR2A	chr2:87109360-87109367	MCF-7	breast:	n/a	n/a
28	POLR2A	chr2:87104309-87104419	MCF-7	breast:	n/a	n/a
29	POLR2A	chr2:87103135-87103387	MCF-7	breast:	n/a	n/a
30	POLR2A	chr2:87108849-87108915	MCF-7	breast:	n/a	n/a
31	POLR2A	chr2:87104781-87105047	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr2:87114921-87115179	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr2:87104278-87104421	Gliobla	brain:	n/a	n/a
34	POLR2A	chr2:87109312-87109348	MCF-7	breast:	n/a	n/a
35	POLR2A	chr2:87109269-87109271	MCF-7	breast:	n/a	n/a
36	POLR2A	chr2:87104321-87104425	A549	lung:	n/a	n/a
37	RXRA	chr2:87110096-87110431	HepG2	liver:	n/a	chr2:87110339-87110348
38	RXRA	chr2:87110056-87110557	HepG2	liver:	n/a	chr2:87110339-87110348
39	SIN3AK20	chr2:87110137-87110303	HepG2	liver:	n/a	n/a
40	SPI1	chr2:87113131-87113497	GM12878	blood:	n/a	n/a
41	SPI1	chr2:87107185-87107410	GM12891	blood:	n/a	n/a
42	SPI1	chr2:87113203-87113481	GM12878	blood:	n/a	n/a
43	SPI1	chr2:87113132-87113686	GM12878	blood:	n/a	n/a
44	SPI1	chr2:87107239-87107410	K562	blood:	n/a	n/a
45	SPI1	chr2:87107218-87107436	GM12878	blood:	n/a	n/a
46	STAT3	chr2:87115520-87115720	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr2:87101126-87101410	MCF10A-Er-Src	breast:	n/a	n/a
48	ZNF384	chr2:87115231-87115431	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000213605	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529198024	chr2:87104218-87104219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541823877	chr2:87104226-87104227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572722550	chr2:87104280-87104281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111368925	chr2:87104289-87104290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111694810	chr2:87104306-87104307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111899699	chr2:87104309-87104310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12614475	chr2:87104331-87104332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs371844992	chr2:87104360-87104361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565396400	chr2:87104366-87104367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11679084	chr2:87104369-87104370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544813746	chr2:87104404-87104405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146808722	chr2:87104412-87104413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs80056122	chr2:87104474-87104475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145616069	chr2:87104532-87104533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192283255	chr2:87104545-87104546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560544629	chr2:87104553-87104554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184287959	chr2:87104693-87104694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202034416	chr2:87104708-87104709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78565610	chr2:87104755-87104756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181153197	chr2:87113177-87113178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs560188492	chr2:87113199-87113200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs113040270	chr2:87113227-87113228	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs552219605	chr2:87113277-87113278	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs530573445	chr2:87113281-87113282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs570434483	chr2:87113282-87113283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs538542636	chr2:87113304-87113305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs147791706	chr2:87113348-87113349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs568605294	chr2:87113353-87113354	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs536047146	chr2:87113359-87113360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs554005060	chr2:87113407-87113408	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs572193728	chr2:87113433-87113434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs62147416	chr2:87113435-87113436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs557749442	chr2:87113504-87113505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs575980098	chr2:87113509-87113510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs567311824	chr2:87113544-87113545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs544185757	chr2:87113625-87113626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs114823415	chr2:87113669-87113670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs374869150	chr2:87114739-87114740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs554099149	chr2:87114752-87114753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs528839617	chr2:87114927-87114928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs541363556	chr2:87114967-87114968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs559615549	chr2:87115022-87115023	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs533375871	chr2:87115037-87115038	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs551543567	chr2:87115053-87115054	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs200531159	chr2:87115065-87115066	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs531037989	chr2:87115077-87115078	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs549169661	chr2:87115082-87115083	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs567692454	chr2:87115116-87115117	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs372580166	chr2:87115120-87115121	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs535014769	chr2:87115294-87115295	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87104200-87104800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:87115000-87115600	Active TSS	Hela-S3	cervix
3	chr2:87123400-87123800	Enhancers	Thymus	Thymus
4	chr2:87123400-87125000	Enhancers	Fetal Thymus	thymus

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