Variant report

Variant	esv3443538
Chromosome Location	chr4:120725398-120755486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:120726364-120726710	HepG2	liver:	n/a	chr4:120726519-120726530
2	CEBPB	chr4:120726379-120726650	A549	lung:	n/a	chr4:120726519-120726530
3	CEBPB	chr4:120735570-120735832	IMR90	lung:	n/a	chr4:120735648-120735659
4	CEBPB	chr4:120732185-120732376	A549	lung:	n/a	n/a
5	CEBPB	chr4:120726348-120726703	IMR90	lung:	n/a	chr4:120726519-120726530
6	CEBPB	chr4:120726433-120726559	H1-hESC	embryonic stem cell:	n/a	chr4:120726519-120726530
7	CEBPB	chr4:120726362-120726666	K562	blood:	n/a	chr4:120726519-120726530
8	CEBPB	chr4:120735508-120735836	HepG2	liver:	n/a	chr4:120735648-120735659
9	CTCF	chr4:120728883-120728937	GM13976	blood:	n/a	n/a
10	CTCF	chr4:120744081-120744099	Lung_OC	lung:	n/a	n/a
11	E2F4	chr4:120729864-120729935	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr4:120747647-120747691	MCF10A-Er-Src	breast:	n/a	n/a
13	EBF1	chr4:120736636-120736987	GM12878	blood:	n/a	chr4:120736814-120736823 chr4:120736812-120736823
14	GATA2	chr4:120749422-120749622	SH-SY5Y	brain:	n/a	n/a
15	JUN	chr4:120725598-120725912	HepG2	liver:	n/a	chr4:120725776-120725789 chr4:120725777-120725786
16	JUND	chr4:120725570-120725942	HepG2	liver:	n/a	chr4:120725777-120725786
17	JUND	chr4:120735816-120735982	HepG2	liver:	n/a	n/a
18	MAFK	chr4:120744132-120744452	HepG2	liver:	n/a	n/a
19	MAFK	chr4:120744029-120744454	HepG2	liver:	n/a	n/a
20	MXI1	chr4:120739198-120739226	GM12878	blood:	n/a	n/a
21	MXI1	chr4:120738062-120738157	GM12878	blood:	n/a	n/a
22	SETDB1	chr4:120733679-120734258	U2OS	brain:	n/a	n/a
23	STAT3	chr4:120743151-120743154	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr4:120729508-120729648	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr4:120747089-120747289	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr4:120751696-120751743	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr4:120747509-120747671	MCF10A-Er-Src	breast:	n/a	n/a
28	TCF7L2	chr4:120753960-120754234	PANC-1	pancreas:	n/a	n/a
29	ZNF143	chr4:120739286-120739331	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:120726319-120726369	SK-N-MC	brain:	n/a
2	chr4:120726319-120726369	HPAEpiC	pulmonary alveolar:	n/a
3	chr4:120726319-120726369	HCF	heart:	n/a
4	chr4:120726319-120726369	LNCaP	prostate:	n/a
5	chr4:120726319-120726369	A549	lung:	n/a
6	chr4:120726319-120726369	AG09309	skin:	n/a
7	chr4:120726319-120726369	CMK	blood:	n/a
8	chr4:120726319-120726369	GM06990	blood:	n/a
9	chr4:120726319-120726369	MCF10A-Er-Src	breast:	n/a
10	chr4:120726319-120726369	NB4	blood:	n/a
11	chr4:120726319-120726369	HRE	kidney:	n/a
12	chr4:120726319-120726369	GM12878	blood:	n/a
13	chr4:120726319-120726369	MCF-7	breast:	n/a
14	chr4:120726319-120726369	HCM	heart:	n/a
15	chr4:120726319-120726369	NT2-D1	testis:	n/a
16	chr4:120726319-120726369	U87	brain:	n/a
17	chr4:120726319-120726369	AG09319	gingival:	n/a
18	chr4:120726319-120726369	HIPEpiC	eye:	n/a
19	chr4:120726319-120726369	AoSMC	blood vessel:	n/a
20	chr4:120726319-120726369	SAEC	small airway:	n/a
21	chr4:120726319-120726369	Caco-2	colon:	n/a
22	chr4:120726319-120726369	HCT-116	colon:	n/a
23	chr4:120726319-120726369	GM19239	blood:	n/a
24	chr4:120726319-120726369	AG10803	skin:	n/a
25	chr4:120726319-120726369	RPTEC	kidney:	n/a
26	chr4:120726319-120726369	SKMC	muscle:	n/a
27	chr4:120726319-120726369	HEK293	kidney:	embryo
28	chr4:120726319-120726369	BE2_C	brain:	n/a
29	chr4:120726319-120726369	GM12892	blood:	n/a
30	chr4:120726319-120726369	HepG2	liver:	n/a
31	chr4:120726319-120726369	AG04449	skin:	fetal
32	chr4:120726319-120726369	HRCEpiC	kidney:	n/a
33	chr4:120726319-120726369	Hela-S3	cervix:	n/a
34	chr4:120726319-120726369	ovcar-3	ovarian:	n/a
35	chr4:120726319-120726369	HEEpiC	esophagus:	n/a
36	chr4:120726319-120726369	H1-hESC	embryonic stem cell:	embryo
37	chr4:120726319-120726369	ECC-1	luminal epithelium:	n/a
38	chr4:120726319-120726369	T-47D	breast:	n/a
39	chr4:120726319-120726369	HRPEpiC	eye:	n/a
40	chr4:120726319-120726369	PANC-1	pancreas:	n/a
41	chr4:120726319-120726369	GM12891	blood:	n/a
42	chr4:120726319-120726369	Hepatocyte	liver:	n/a
43	chr4:120726319-120726369	NH-A	brain:	n/a
44	chr4:120726319-120726369	PFSK-1	brain:	n/a
45	chr4:120726319-120726369	NHBE	bronchial:	n/a
46	chr4:120726319-120726369	ProgFib	skin:	n/a
47	chr4:120726319-120726369	HUVEC	blood vessel:	n/a
48	chr4:120726319-120726369	SK-N-SH_RA	brain:	n/a
49	chr4:120726319-120726369	K562	blood:	n/a
50	chr4:120726319-120726369	BJ	skin:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE5A-2	chr4:120725607-120725659	XLOC_004058
2	lnc-PDE5A-2	chr4:120725607-120725670	XLOC_004058
3	lnc-PDE5A-2	chr4:120725607-120725670	ENSG00000250772
4	lnc-PDE5A-2	chr4:120725607-120725675	XLOC_004058
5	lnc-PDE5A-2	chr4:120725607-120725655	XLOC_004058

No data

Variant related genes	Relation type
ENSG00000250772	TF binding region
ENSG00000250772	CpG island
NACC2	miRNA target sites

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	rs145996710	chr4:120725687-120725688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs139976813	chr4:120725705-120725706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs13119094	chr4:120725734-120725735	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs115272900	chr4:120725793-120725794	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs558040801	chr4:120725796-120725797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs34824547	chr4:120725809-120725810	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs141300849	chr4:120725829-120725830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs527426156	chr4:120725838-120725839	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs115819973	chr4:120725923-120725924	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs72908419	chr4:120725927-120725928	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572151544	chr4:120726319-120726320	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs140389774	chr4:120726349-120726350	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs560834084	chr4:120726375-120726376	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs373294102	chr4:120726390-120726391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs78126880	chr4:120726393-120726394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs543711333	chr4:120726400-120726401	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs564004160	chr4:120726406-120726407	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs113940517	chr4:120726409-120726410	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs552337091	chr4:120726430-120726431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs191307893	chr4:120726445-120726446	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs528534537	chr4:120726446-120726447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs548289308	chr4:120726530-120726531	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200598763	chr4:120726550-120726551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs372925535	chr4:120726564-120726565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs568321759	chr4:120726584-120726585	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs537451546	chr4:120726615-120726616	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs550740647	chr4:120726649-120726650	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs116382300	chr4:120726667-120726668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs560481801	chr4:120729513-120729514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs574089499	chr4:120729538-120729539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs187755753	chr4:120729541-120729542	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs561830065	chr4:120729548-120729549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530872903	chr4:120729560-120729561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs559933569	chr4:120729589-120729590	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs144781694	chr4:120729622-120729623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs184789507	chr4:120729899-120729900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs10013306	chr4:120729907-120729908	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs72908451	chr4:120734633-120734634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551035673	chr4:120734640-120734641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569950164	chr4:120734654-120734655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532480105	chr4:120734728-120734729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552374799	chr4:120734730-120734731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565753343	chr4:120734784-120734785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79667820	chr4:120734835-120734836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554369314	chr4:120734859-120734860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529851250	chr4:120734865-120734866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568192245	chr4:120734867-120734868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536638156	chr4:120734876-120734877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35674683	chr4:120734911-120734912	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577098964	chr4:120734925-120734926	Enhancers	n/a	n/a	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
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD
small cell lung cancer	20016488	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120734600-120735000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:120751000-120753800	Weak transcription	Aorta	Aorta
3	chr4:120753800-120754200	Enhancers	Aorta	Aorta
4	chr4:120753800-120755200	Enhancers	Osteobl	bone
5	chr4:120753800-120757400	Enhancers	NHDF-Ad	bronchial
6	chr4:120754000-120755000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:120754000-120755000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:120754000-120757000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:120754200-120755600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:120754200-120755800	Weak transcription	Aorta	Aorta
11	chr4:120754600-120754800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:120754600-120755400	Enhancers	Colon Smooth Muscle	Colon
13	chr4:120754600-120756800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:120754800-120755400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:120754800-120755800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:120755000-120756000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:120755200-120756600	Weak transcription	Osteobl	bone
18	chr4:120755400-120756800	Weak transcription	Colon Smooth Muscle	Colon

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