Variant report

Variant	esv15035
Chromosome Location	chr4:132778707-132832771
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	BATF	chr4:132800279-132800515	GM12878	blood:	n/a	chr4:132800367-132800378
2	BATF	chr4:132800260-132800528	GM12878	blood:	n/a	chr4:132800367-132800378
3	BCL11A	chr4:132800227-132800577	GM12878	blood:	n/a	n/a
4	CEBPB	chr4:132790795-132790862	HepG2	liver:	n/a	chr4:132790812-132790829 chr4:132790815-132790826
5	CTCF	chr4:132808642-132808705	GM10266	blood:	n/a	n/a
6	CTCF	chr4:132781362-132781400	Lung_OC	lung:	n/a	n/a
7	FOXA1	chr4:132797427-132797709	HepG2	liver:	n/a	n/a
8	GATA2	chr4:132824216-132824465	K562	blood:	n/a	n/a
9	IRF4	chr4:132800275-132800568	GM12878	blood:	n/a	n/a
10	MAFF	chr4:132794797-132794959	K562	blood:	n/a	n/a
11	MAFF	chr4:132827330-132827592	HepG2	liver:	n/a	chr4:132827439-132827457
12	MAFK	chr4:132794777-132794959	HepG2	liver:	n/a	chr4:132794842-132794857 chr4:132794842-132794858 chr4:132794845-132794859 chr4:132794847-132794858 chr4:132794847-132794858
13	MAFK	chr4:132827397-132827597	IMR90	lung:	n/a	chr4:132827542-132827557 chr4:132827442-132827453
14	MAFK	chr4:132827367-132827580	HepG2	liver:	n/a	chr4:132827542-132827557 chr4:132827442-132827453
15	MAFK	chr4:132794762-132794990	HepG2	liver:	n/a	chr4:132794842-132794857 chr4:132794842-132794858 chr4:132794845-132794859 chr4:132794847-132794858 chr4:132794847-132794858
16	MAFK	chr4:132794788-132794801	IMR90	lung:	n/a	n/a
17	MAFK	chr4:132827340-132827605	HepG2	liver:	n/a	chr4:132827542-132827557 chr4:132827442-132827453
18	PBX3	chr4:132811991-132812144	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:132814368-132814465	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr4:132792647-132792761	GM12878	blood:	n/a	n/a
21	POU2F2	chr4:132783029-132783359	GM12878	blood:	n/a	n/a
22	POU2F2	chr4:132827963-132828283	GM12878	blood:	n/a	n/a
23	POU2F2	chr4:132803640-132803968	GM12878	blood:	n/a	n/a
24	SIX5	chr4:132831649-132831941	GM12878	blood:	n/a	n/a
25	SP1	chr4:132820410-132820487	HepG2	liver:	n/a	n/a
26	SP1	chr4:132807049-132807295	GM12878	blood:	n/a	n/a
27	SP1	chr4:132811808-132812116	GM12878	blood:	n/a	n/a
28	SPI1	chr4:132789165-132789297	K562	blood:	n/a	n/a
29	SRF	chr4:132810252-132810375	GM12878	blood:	n/a	n/a
30	STAT3	chr4:132832119-132832230	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr4:132782155-132782327	MCF10A-Er-Src	breast:	n/a	n/a
32	TCF12	chr4:132783087-132783284	HepG2	liver:	n/a	n/a
33	ZBTB33	chr4:132803766-132804049	K562	blood:	n/a	n/a

Variant related genes	Relation type
RPL7AP28	TF binding region

Extended variants
information (count: 170 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3961470	chr4:132782162-132782163	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs171208	chr4:132782202-132782203	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs60008863	chr4:132782222-132782223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs187073937	chr4:132782260-132782261	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs189748683	chr4:132782281-132782282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs200871693	chr4:132782320-132782321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs367888177	chr4:132782323-132782324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs564311313	chr4:132782324-132782325	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs62305991	chr4:132783050-132783051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs555587728	chr4:132783065-132783066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs688164	chr4:132783068-132783069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs572235546	chr4:132783109-132783110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs562288770	chr4:132783214-132783215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs62305992	chr4:132783246-132783247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs62305993	chr4:132783285-132783286	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs633149	chr4:132783294-132783295	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs558239296	chr4:132783305-132783306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs62305994	chr4:132783324-132783325	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs577909444	chr4:132783331-132783332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs543430218	chr4:132783336-132783337	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs551899778	chr4:132792833-132792834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3977689	chr4:132792863-132792864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2863853	chr4:132792903-132792904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2863854	chr4:132792924-132792925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571346294	chr4:132792936-132792937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569425138	chr4:132792949-132792950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538075013	chr4:132792953-132792954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2863855	chr4:132792954-132792955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370310627	chr4:132792961-132792962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184662153	chr4:132792962-132792963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567233737	chr4:132792973-132792974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536374106	chr4:132792982-132792983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552690438	chr4:132793009-132793010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572545431	chr4:132793011-132793012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2863856	chr4:132793027-132793028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544863771	chr4:132793038-132793039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570350	chr4:132793135-132793136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553628661	chr4:132793143-132793144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190291469	chr4:132793147-132793148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200336248	chr4:132793155-132793156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2902592	chr4:132793158-132793159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2863857	chr4:132793162-132793163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544093257	chr4:132793178-132793179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544850278	chr4:132793179-132793180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561172630	chr4:132793194-132793195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530117641	chr4:132793204-132793205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201394262	chr4:132793210-132793211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182512317	chr4:132793226-132793227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560479609	chr4:132793240-132793241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114178609	chr4:132793259-132793260	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132792800-132793400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:132799600-132800800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:132799600-132800800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:132809400-132810200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:132821800-132822400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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