Variant report

Variant	esv1805545
Chromosome Location	chr4:119366960-119387297
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	BCL3	chr4:119382599-119382899	GM12878	blood:	n/a	n/a
2	CEBPB	chr4:119376054-119376279	IMR90	lung:	n/a	n/a
3	CEBPB	chr4:119382583-119382910	IMR90	lung:	n/a	chr4:119382722-119382733
4	CTCF	chr4:119371620-119371770	GM06990	blood:	n/a	n/a
5	CTCF	chr4:119386916-119386964	Lung_OC	lung:	n/a	n/a
6	CTCF	chr4:119371545-119371653	LNCaP	prostate:	n/a	n/a
7	CTCF	chr4:119371579-119371615	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr4:119370526-119370583	LNCaP	prostate:	n/a	n/a
9	CTCF	chr4:119368079-119368248	K562	blood:	n/a	n/a
10	CTCF	chr4:119373759-119373852	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr4:119371483-119371683	K562	blood:	n/a	n/a
12	CTCF	chr4:119374118-119374125	LNCaP	prostate:	n/a	n/a
13	CTCF	chr4:119371565-119371608	A549	lung:	n/a	n/a
14	CTCF	chr4:119371523-119371617	Gliobla	brain:	n/a	n/a
15	CTCF	chr4:119369972-119370076	Pancreas_OC	pancreas:	n/a	n/a
16	CTCF	chr4:119371558-119371627	GM12878	blood:	n/a	n/a
17	CTCF	chr4:119386938-119386954	Pancreas_OC	pancreas:	n/a	n/a
18	CTCF	chr4:119371640-119371790	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr4:119371523-119371662	LNCaP	prostate:	n/a	n/a
20	CTCF	chr4:119380706-119380731	Kidney_OC	kidney:	n/a	n/a
21	FOS	chr4:119382653-119382978	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr4:119382613-119383018	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr4:119376188-119376281	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr4:119382607-119383030	MCF10A-Er-Src	breast:	n/a	n/a
25	HEY1	chr4:119380964-119381207	K562	blood:	n/a	n/a
26	HEY1	chr4:119381251-119381448	K562	blood:	n/a	n/a
27	MAFF	chr4:119376225-119376258	K562	blood:	n/a	chr4:119376236-119376254
28	MAFF	chr4:119376093-119376377	HepG2	liver:	n/a	chr4:119376236-119376254
29	MAFK	chr4:119376087-119376377	HepG2	liver:	n/a	chr4:119376237-119376252 chr4:119376241-119376252 chr4:119376232-119376252
30	MAFK	chr4:119376065-119376417	IMR90	lung:	n/a	chr4:119376237-119376252 chr4:119376241-119376252 chr4:119376232-119376252
31	MAFK	chr4:119376084-119376296	HepG2	liver:	n/a	chr4:119376237-119376252 chr4:119376241-119376252 chr4:119376232-119376252
32	MAFK	chr4:119376225-119376255	K562	blood:	n/a	chr4:119376237-119376252 chr4:119376241-119376252 chr4:119376232-119376252
33	MYC	chr4:119375514-119375552	GM12878	blood:	n/a	n/a
34	POLR2A	chr4:119381012-119381434	GM12878	blood:	n/a	n/a
35	POLR2A	chr4:119380980-119381531	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:119369201-119369226	GM12878	blood:	n/a	n/a
37	POLR2A	chr4:119381005-119381243	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr4:119369267-119369319	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:119381248-119381447	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr4:119382538-119383019	U87	brain:	n/a	n/a
41	POLR2A	chr4:119382680-119382957	U87	brain:	n/a	n/a
42	POLR2A	chr4:119374157-119374226	Gliobla	brain:	n/a	n/a
43	POLR2A	chr4:119380969-119381541	GM12892	blood:	n/a	n/a
44	POLR2A	chr4:119373890-119373969	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:119382656-119382908	U87	brain:	n/a	n/a
46	RFX5	chr4:119368618-119368742	HepG2	liver:	n/a	chr4:119368704-119368719 chr4:119368708-119368717
47	SETDB1	chr4:119384588-119384921	U2OS	brain:	n/a	n/a
48	SPI1	chr4:119373680-119373835	K562	blood:	n/a	n/a
49	SPI1	chr4:119369430-119369666	K562	blood:	n/a	n/a
50	SPI1	chr4:119369295-119369774	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119199281..119200962-chr4:119368800..119371509,2	MCF-7	breast:

Variant related genes	Relation type
CEP170P1	TF binding region
ENSG00000269893	chromatin interactions

Extended variants
information (count: 202 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201945953	chr4:119368841-119368842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567205712	chr4:119368906-119368907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111338051	chr4:119368917-119368918	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112240538	chr4:119368925-119368926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529872244	chr4:119368933-119368934	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549916291	chr4:119368953-119368954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570062954	chr4:119369005-119369006	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112776511	chr4:119369007-119369008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539077610	chr4:119369040-119369041	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559091280	chr4:119369055-119369056	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185066587	chr4:119369060-119369061	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535000326	chr4:119369062-119369063	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555330657	chr4:119369123-119369124	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575047881	chr4:119369144-119369145	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543669837	chr4:119369213-119369214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557487269	chr4:119369236-119369237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576057644	chr4:119369240-119369241	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562024106	chr4:119369277-119369278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2969714	chr4:119369310-119369311	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530841051	chr4:119369328-119369329	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544749810	chr4:119369345-119369346	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111521765	chr4:119369383-119369384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2955337	chr4:119369402-119369403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550353580	chr4:119369480-119369481	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564626916	chr4:119369490-119369491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs150760182	chr4:119369493-119369494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540599745	chr4:119369506-119369507	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190306788	chr4:119369525-119369526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529963476	chr4:119369537-119369538	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531986520	chr4:119369564-119369565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549714855	chr4:119369603-119369604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs563547312	chr4:119369622-119369623	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532338357	chr4:119369640-119369641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552740109	chr4:119369674-119369675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550558784	chr4:119369708-119369709	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181887713	chr4:119369742-119369743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570848454	chr4:119369743-119369744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548568534	chr4:119369746-119369747	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568668544	chr4:119369752-119369753	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537702532	chr4:119369756-119369757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557366616	chr4:119369791-119369792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs58731393	chr4:119369800-119369801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186532071	chr4:119369820-119369821	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189799397	chr4:119369822-119369823	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368749569	chr4:119369833-119369834	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373833679	chr4:119369934-119369935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558256789	chr4:119369983-119369984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571776254	chr4:119370070-119370071	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567027648	chr4:119370200-119370201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs180692716	chr4:119370201-119370202	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	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
Colorectal cancer	20459617	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119378600-119379400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:119382400-119382800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:119386800-119387200	Enhancers	NHDF-Ad	bronchial
4	chr4:119386800-119387400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:119387200-119387600	Weak transcription	NHDF-Ad	bronchial

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