Variant report

Variant	nsv594832
Chromosome Location	chr4:91575741-91606389
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	CEBPB	chr4:91581817-91582162	Hela-S3	cervix:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
2	CEBPB	chr4:91581814-91582158	H1-hESC	embryonic stem cell:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
3	CEBPB	chr4:91581833-91582228	A549	lung:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
4	CEBPB	chr4:91581884-91582127	ECC-1	luminal epithelium:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
5	CEBPB	chr4:91581826-91582080	A549	lung:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
6	CEBPB	chr4:91581805-91582181	IMR90	lung:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
7	CEBPB	chr4:91581812-91582169	A549	lung:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
8	CEBPB	chr4:91581881-91582081	MCF-7	breast:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
9	CEBPB	chr4:91581883-91582230	MCF-7	breast:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
10	CEBPB	chr4:91581813-91582180	HepG2	liver:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
11	CEBPB	chr4:91581839-91582171	K562	blood:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
12	CTCF	chr4:91583327-91583418	GM13977	blood:	n/a	n/a
13	CTCF	chr4:91590640-91590790	AG10803	skin:	n/a	n/a
14	E2F4	chr4:91585122-91585322	MCF10A-Er-Src	breast:	n/a	n/a
15	EBF1	chr4:91591375-91591736	GM12878	blood:	n/a	chr4:91591567-91591578
16	EBF1	chr4:91591266-91591821	GM12878	blood:	n/a	chr4:91591567-91591578
17	EBF1	chr4:91591438-91591741	GM12878	blood:	n/a	chr4:91591567-91591578
18	EP300	chr4:91591376-91591612	GM12878	blood:	n/a	n/a
19	FOS	chr4:91590035-91590161	MCF10A-Er-Src	breast:	n/a	chr4:91590145-91590154
20	FOSL2	chr4:91596714-91596927	HepG2	liver:	n/a	n/a
21	FOXA2	chr4:91596698-91596984	A549	lung:	n/a	n/a
22	FOXA2	chr4:91602296-91602678	A549	lung:	n/a	n/a
23	FOXA2	chr4:91602061-91602649	A549	lung:	n/a	n/a
24	GATA3	chr4:91592831-91592863	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr4:91593977-91594089	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr4:91576597-91576815	SH-SY5Y	brain:	n/a	chr4:91576640-91576657 chr4:91576632-91576653
27	JUND	chr4:91580532-91580702	HepG2	liver:	n/a	chr4:91580604-91580615
28	MYC	chr4:91582034-91582185	MCF10A-Er-Src	breast:	n/a	n/a
29	MYC	chr4:91603819-91603888	MCF10A-Er-Src	breast:	n/a	n/a
30	NR3C1	chr4:91596751-91596849	A549	lung:	n/a	n/a
31	NR3C1	chr4:91596709-91596869	A549	lung:	n/a	n/a
32	PBX3	chr4:91596743-91596891	GM12878	blood:	n/a	n/a
33	PBX3	chr4:91579613-91579742	GM12878	blood:	n/a	n/a
34	POLR2A	chr4:91596708-91596871	HepG2	liver:	n/a	n/a
35	POLR2A	chr4:91582719-91582924	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr4:91595109-91595211	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr4:91577952-91578000	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr4:91587280-91587449	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr4:91579686-91579842	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr4:91584361-91584381	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr4:91596721-91596853	A549	lung:	n/a	n/a
42	POLR2A	chr4:91577000-91577177	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr4:91604469-91604639	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr4:91589493-91589497	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:91582429-91582430	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:91593023-91593143	GM12878	blood:	n/a	n/a
47	POLR2A	chr4:91589346-91589472	GM12878	blood:	n/a	n/a
48	POLR2A	chr4:91575681-91575778	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr4:91596755-91596853	A549	lung:	n/a	n/a
50	RUNX3	chr4:91591355-91591703	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:91581426..91583883-chr4:91587486..91589501,2	MCF-7	breast:
2	chr4:91581426..91583883-chr4:91587486..91589501,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251401	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557786952	chr4:91596606-91596607	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs577836774	chr4:91596628-91596629	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs115443098	chr4:91596638-91596639	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs188093289	chr4:91596639-91596640	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs181299839	chr4:91596679-91596680	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542704728	chr4:91596691-91596692	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs11731861	chr4:91596734-91596735	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs62314419	chr4:91596735-91596736	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs545556696	chr4:91596746-91596747	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs10559291	chr4:91596768-91596769	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs397813467	chr4:91596770-91596771	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs397786416	chr4:91596771-91596772	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs371270727	chr4:91596794-91596795	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs376349820	chr4:91596821-91596822	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs202110645	chr4:91596823-91596824	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368430169	chr4:91596826-91596827	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs200385135	chr4:91596831-91596832	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs374639261	chr4:91596855-91596856	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs374795520	chr4:91596891-91596892	Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs112735243	chr4:91602654-91602655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs144010585	chr4:91603121-91603122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs553792271	chr4:91603160-91603161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs567332903	chr4:91603175-91603176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs78658733	chr4:91603194-91603195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs367830965	chr4:91603197-91603198	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs567882826	chr4:91603833-91603834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs536263022	chr4:91603837-91603838	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs79355899	chr4:91603858-91603859	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs570096430	chr4:91603877-91603878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91596600-91596800	Active TSS	K562	blood
2	chr4:91596600-91597000	Enhancers	Primary T cells from cord blood	blood
3	chr4:91596600-91597000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr4:91596800-91597000	Flanking Active TSS	K562	blood

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