Variant report

Variant	nsv595432
Chromosome Location	chr4:132177261-132208026
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	ATF3	chr4:132179544-132179772	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL11A	chr4:132178410-132178696	GM12878	blood:	n/a	n/a
3	BCL11A	chr4:132178348-132178643	GM12878	blood:	n/a	chr4:132178369-132178378
4	BHLHE40	chr4:132178402-132178703	GM12878	blood:	n/a	n/a
5	CCNT2	chr4:132205064-132205471	K562	blood:	n/a	n/a
6	CEBPB	chr4:132179607-132179807	HepG2	liver:	n/a	chr4:132179698-132179709
7	CEBPB	chr4:132179571-132179733	A549	lung:	n/a	chr4:132179698-132179709
8	CEBPB	chr4:132179496-132179815	ECC-1	luminal epithelium:	n/a	chr4:132179698-132179709
9	CEBPB	chr4:132179525-132179882	H1-hESC	embryonic stem cell:	n/a	chr4:132179698-132179709
10	CEBPB	chr4:132179537-132179884	ECC-1	luminal epithelium:	n/a	chr4:132179698-132179709
11	CEBPB	chr4:132184264-132184515	HepG2	liver:	n/a	chr4:132184363-132184376 chr4:132184363-132184374 chr4:132184365-132184376
12	CTCF	chr4:132192800-132192950	GM12867	blood:	n/a	n/a
13	E2F4	chr4:132198917-132199101	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr4:132183895-132184448	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr4:132202858-132203105	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr4:132201577-132201932	MCF10A-Er-Src	breast:	n/a	n/a
17	EBF1	chr4:132178395-132178589	GM12878	blood:	n/a	n/a
18	EBF1	chr4:132200645-132200808	GM12878	blood:	n/a	n/a
19	EP300	chr4:132178437-132178610	GM12878	blood:	n/a	n/a
20	EP300	chr4:132178403-132178739	GM12878	blood:	n/a	n/a
21	FAM48A	chr4:132189387-132189511	GM12878	blood:	n/a	n/a
22	FOS	chr4:132179522-132179855	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr4:132183840-132184538	MCF10A-Er-Src	breast:	n/a	chr4:132184283-132184292
24	FOS	chr4:132178828-132179104	MCF10A-Er-Src	breast:	n/a	chr4:132179002-132179012 chr4:132179002-132179012 chr4:132179002-132179012
25	FOS	chr4:132179597-132179800	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr4:132179552-132179818	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr4:132179525-132179855	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr4:132178849-132179103	MCF10A-Er-Src	breast:	n/a	chr4:132179002-132179012 chr4:132179002-132179012 chr4:132179002-132179012
29	FOS	chr4:132178903-132179055	MCF10A-Er-Src	breast:	n/a	chr4:132179002-132179012 chr4:132179002-132179012 chr4:132179002-132179012
30	FOS	chr4:132183944-132184517	MCF10A-Er-Src	breast:	n/a	chr4:132184283-132184292
31	FOS	chr4:132183943-132184535	MCF10A-Er-Src	breast:	n/a	chr4:132184283-132184292
32	FOS	chr4:132183964-132184539	MCF10A-Er-Src	breast:	n/a	chr4:132184283-132184292
33	GATA3	chr4:132183481-132183556	SH-SY5Y	brain:	n/a	n/a
34	JUND	chr4:132179643-132179787	HepG2	liver:	n/a	n/a
35	JUND	chr4:132179538-132179833	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAZ	chr4:132180400-132180414	HepG2	liver:	n/a	n/a
37	MYC	chr4:132184127-132184400	MCF10A-Er-Src	breast:	n/a	n/a
38	MYC	chr4:132179629-132179756	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr4:132184040-132184468	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr4:132179572-132179830	MCF10A-Er-Src	breast:	n/a	n/a
41	NFYB	chr4:132181655-132181861	GM12878	blood:	n/a	chr4:132181708-132181718 chr4:132181706-132181720
42	PBX3	chr4:132178401-132178529	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:132186698-132186764	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr4:132202112-132202287	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr4:132196264-132196420	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr4:132177560-132177615	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr4:132200590-132200904	H1-neurons	neurons:	n/a	n/a
48	SETDB1	chr4:132206862-132207249	U2OS	brain:	n/a	n/a
49	STAT3	chr4:132183942-132184445	MCF10A-Er-Src	breast:	n/a	chr4:132184338-132184347 chr4:132184339-132184348
50	STAT3	chr4:132184135-132184466	MCF10A-Er-Src	breast:	n/a	chr4:132184338-132184347 chr4:132184339-132184348

Variant related genes	Relation type
RNU6-224P	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192201219	chr4:132178601-132178602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563631059	chr4:132178648-132178649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529262931	chr4:132178699-132178700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549445516	chr4:132178711-132178712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572527990	chr4:132178819-132178820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559786235	chr4:132178849-132178850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528553636	chr4:132178856-132178857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs66775392	chr4:132178860-132178861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115607085	chr4:132178878-132178879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138251838	chr4:132178923-132178924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538180449	chr4:132179038-132179039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558065969	chr4:132179140-132179141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537686027	chr4:132179221-132179222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550981829	chr4:132179237-132179238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141892808	chr4:132179248-132179249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536554416	chr4:132179323-132179324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376381581	chr4:132179325-132179326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11938816	chr4:132179341-132179342	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs6838335	chr4:132179357-132179358	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs200266330	chr4:132179404-132179405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150633494	chr4:132179413-132179414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139896350	chr4:132179436-132179437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6534832	chr4:132179527-132179528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541911760	chr4:132179617-132179618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184410790	chr4:132179676-132179677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189562275	chr4:132179680-132179681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181841058	chr4:132179694-132179695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542951772	chr4:132179728-132179729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115517464	chr4:132179791-132179792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528525167	chr4:132179793-132179794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575541164	chr4:132179809-132179810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149413248	chr4:132179841-132179842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377006211	chr4:132179884-132179885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565419337	chr4:132179940-132179941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531008399	chr4:132179958-132179959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551109989	chr4:132179987-132179988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544538900	chr4:132180041-132180042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184608880	chr4:132180053-132180054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536514846	chr4:132180064-132180065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371127834	chr4:132180067-132180068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189126747	chr4:132180090-132180091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147069310	chr4:132180091-132180092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386679573	chr4:132180097-132180098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4490472	chr4:132180099-132180100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550080895	chr4:132180106-132180107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571366631	chr4:132180117-132180118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571239620	chr4:132180128-132180129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536750104	chr4:132180214-132180215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146357956	chr4:132180219-132180220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573894925	chr4:132180228-132180229	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132178600-132178800	Enhancers	Brain Substantia Nigra	brain
2	chr4:132178800-132179600	Weak transcription	Brain Substantia Nigra	brain
3	chr4:132179000-132180000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr4:132179400-132180400	Enhancers	Brain Hippocampus Middle	brain
5	chr4:132179600-132180000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:132179600-132180400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:132179600-132180600	Enhancers	Brain Cingulate Gyrus	brain
8	chr4:132179600-132180600	Enhancers	Brain Substantia Nigra	brain

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