Variant report

Variant	esv1815228
Chromosome Location	chr4:76955027-76959624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:183)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr4:76956439-76956654	GM12878	blood:	n/a	n/a
2	CEBPB	chr4:76959131-76959345	HepG2	liver:	n/a	chr4:76959251-76959262
3	CEBPB	chr4:76959264-76959277	K562	blood:	n/a	n/a
4	CTCF	chr4:76958136-76958208	MCF-7	breast:	n/a	n/a
5	CTCF	chr4:76958197-76958224	LNCaP	prostate:	n/a	n/a
6	CTCF	chr4:76958081-76958249	HepG2	liver:	n/a	n/a
7	CTCF	chr4:76958200-76958248	HepG2	liver:	n/a	n/a
8	CTCF	chr4:76956300-76956450	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr4:76958154-76958245	MCF-7	breast:	n/a	n/a
10	CTCF	chr4:76958076-76958325	NHEK	skin:	n/a	n/a
11	CTCF	chr4:76958140-76958290	AoAF	blood vessel:	n/a	n/a
12	CTCF	chr4:76958120-76958270	GM12866	blood:	n/a	n/a
13	CTCF	chr4:76958184-76958204	GM19240	blood:	n/a	n/a
14	CTCF	chr4:76958134-76958285	K562	blood:	n/a	n/a
15	CTCF	chr4:76958140-76958290	HepG2	liver:	n/a	n/a
16	CTCF	chr4:76958061-76958354	K562	blood:	n/a	n/a
17	CTCF	chr4:76958140-76958290	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr4:76958200-76958350	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr4:76958150-76958153	MCF-7	breast:	n/a	n/a
20	CTCF	chr4:76958149-76958246	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr4:76956980-76957130	AG10803	skin:	n/a	n/a
22	CTCF	chr4:76957941-76958324	K562	blood:	n/a	n/a
23	CTCF	chr4:76958058-76958376	K562	blood:	n/a	n/a
24	CTCF	chr4:76958120-76958270	AoAF	blood vessel:	n/a	n/a
25	CTCF	chr4:76958006-76958289	K562	blood:	n/a	n/a
26	CTCF	chr4:76958172-76958198	GM19238	blood:	n/a	n/a
27	EP300	chr4:76958133-76958152	K562	blood:	n/a	n/a
28	FOS	chr4:76956430-76956615	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr4:76957033-76957494	MCF10A-Er-Src	breast:	n/a	chr4:76957301-76957312 chr4:76957303-76957311 chr4:76957041-76957050 chr4:76957304-76957311
30	FOS	chr4:76957055-76957501	HUVEC	blood vessel:	n/a	chr4:76957301-76957312 chr4:76957303-76957311 chr4:76957304-76957311
31	FOS	chr4:76957173-76957442	MCF10A-Er-Src	breast:	n/a	chr4:76957301-76957312 chr4:76957303-76957311 chr4:76957304-76957311
32	FOS	chr4:76956245-76956587	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr4:76957108-76957481	MCF10A-Er-Src	breast:	n/a	chr4:76957301-76957312 chr4:76957303-76957311 chr4:76957304-76957311
34	FOS	chr4:76957049-76957459	MCF10A-Er-Src	breast:	n/a	chr4:76957301-76957312 chr4:76957303-76957311 chr4:76957304-76957311
35	FOS	chr4:76956326-76956664	MCF10A-Er-Src	breast:	n/a	n/a
36	GATA2	chr4:76958588-76958889	HUVEC	blood vessel:	n/a	n/a
37	GATA2	chr4:76957100-76957553	HUVEC	blood vessel:	n/a	chr4:76957387-76957408 chr4:76957389-76957405 chr4:76957392-76957402 chr4:76957389-76957405
38	HCFC1	chr4:76958226-76958256	K562	blood:	n/a	n/a
39	IRF1	chr4:76957343-76957601	K562	blood:	n/a	chr4:76957530-76957544 chr4:76957530-76957540
40	JUND	chr4:76959219-76959325	K562	blood:	n/a	n/a
41	MAFK	chr4:76958170-76958294	K562	blood:	n/a	n/a
42	MAZ	chr4:76959558-76959601	HepG2	liver:	n/a	n/a
43	MYC	chr4:76956369-76956580	MCF10A-Er-Src	breast:	n/a	n/a
44	NFYA	chr4:76955729-76955898	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:76956207-76957518	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr4:76955064-76955243	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr4:76955605-76955875	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr4:76954746-76955728	K562	blood:	n/a	n/a
49	RCOR1	chr4:76958070-76958256	K562	blood:	n/a	n/a
50	RFX5	chr4:76957935-76957961	Hela-S3	cervix:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:76958126-76958176	PANC-1	pancreas:	n/a
2	chr4:76958061-76958111	SK-N-SH_RA	brain:	n/a
3	chr4:76958054-76958104	ovcar-3	ovarian:	n/a
4	chr4:76958061-76958111	HCT-116	colon:	n/a
5	chr4:76958126-76958176	GM06990	blood:	n/a
6	chr4:76958126-76958176	NB4	blood:	n/a
7	chr4:76958126-76958176	HNPCEpiC	eye:	n/a
8	chr4:76958061-76958111	HepG2	liver:	n/a
9	chr4:76958126-76958176	HIPEpiC	eye:	n/a
10	chr4:76958061-76958111	MCF10A-Er-Src	breast:	n/a
11	chr4:76958054-76958104	GM12891	blood:	n/a
12	chr4:76958061-76958111	GM06990	blood:	n/a
13	chr4:76958054-76958104	PrEC	prostate:	n/a
14	chr4:76958054-76958104	Jurkat	blood:	n/a
15	chr4:76958061-76958111	H1-hESC	embryonic stem cell:	embryo
16	chr4:76958054-76958104	MCF-7	breast:	n/a
17	chr4:76958054-76958104	HCPEpiC	choroid plexus:	n/a
18	chr4:76958054-76958104	HEK293	kidney:	embryo
19	chr4:76958061-76958111	MCF-7	breast:	n/a
20	chr4:76958061-76958111	NHDF-neo	bronchial:	n/a
21	chr4:76958126-76958176	HMEC	breast:	n/a
22	chr4:76958061-76958111	Caco-2	colon:	n/a
23	chr4:76958054-76958104	HRPEpiC	eye:	n/a
24	chr4:76958054-76958104	GM12892	blood:	n/a
25	chr4:76958126-76958176	GM12892	blood:	n/a
26	chr4:76958054-76958104	SAEC	small airway:	n/a
27	chr4:76958061-76958111	AG04450	lung:	fetal
28	chr4:76958126-76958176	HCM	heart:	n/a
29	chr4:76958054-76958104	HMEC	breast:	n/a
30	chr4:76958061-76958111	AoSMC	blood vessel:	n/a
31	chr4:76958126-76958176	ovcar-3	ovarian:	n/a
32	chr4:76958126-76958176	AG04449	skin:	fetal
33	chr4:76958061-76958111	HEEpiC	esophagus:	n/a
34	chr4:76958054-76958104	HRCEpiC	kidney:	n/a
35	chr4:76958054-76958104	HRE	kidney:	n/a
36	chr4:76958061-76958111	Hepatocyte	liver:	n/a
37	chr4:76958126-76958176	BE2_C	brain:	n/a
38	chr4:76958061-76958111	K562	blood:	n/a
39	chr4:76958054-76958104	K562	blood:	n/a
40	chr4:76958126-76958176	HAEpiC	amniotic membrane:	n/a
41	chr4:76958061-76958111	PANC-1	pancreas:	n/a
42	chr4:76958054-76958104	Hepatocyte	liver:	n/a
43	chr4:76958054-76958104	IMR90	lung:	fetal
44	chr4:76958061-76958111	PrEC	prostate:	n/a
45	chr4:76958054-76958104	Hela-S3	cervix:	n/a
46	chr4:76958061-76958111	Hela-S3	cervix:	n/a
47	chr4:76958061-76958111	BE2_C	brain:	n/a
48	chr4:76958054-76958104	Caco-2	colon:	n/a
49	chr4:76958126-76958176	NT2-D1	testis:	n/a
50	chr4:76958054-76958104	AG10803	skin:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:76884899..76887580-chr4:76953090..76955387,2	K562	blood:
2	chr4:76932434..76934325-chr4:76957722..76960530,2	K562	blood:
3	chr4:76950183..76953178-chr4:76959334..76961500,2	K562	blood:
4	chr4:76946217..76947878-chr4:76952883..76955086,2	K562	blood:
5	chr4:76911559..76914179-chr4:76954597..76956782,2	MCF-7	breast:
6	chr4:76956748..76960411-chr4:76960413..76963338,4	K562	blood:

No data

Variant related genes	Relation type
CXCL11	TF binding region
ENSG00000225846	TF binding region
CXCL11	CpG island
ENSG00000225846	CpG island
ENSG00000198301	chromatin interactions
ENSG00000156219	chromatin interactions
ENSG00000169248	chromatin interactions

Extended variants
information (count: 190 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:190 , 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	rs4583787	chr4:76955069-76955070	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533988201	chr4:76955085-76955086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546741826	chr4:76955103-76955104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4356932	chr4:76955194-76955195	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs149870657	chr4:76955195-76955196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4619915	chr4:76955201-76955202	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs576689991	chr4:76955208-76955209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537731320	chr4:76955217-76955218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7436646	chr4:76955229-76955230	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs573916617	chr4:76955247-76955248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9994667	chr4:76955248-76955249	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs553057996	chr4:76955322-76955323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10003240	chr4:76955330-76955331	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs373367097	chr4:76955336-76955337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs75654414	chr4:76955338-76955339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10025102	chr4:76955358-76955359	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs1140835	chr4:76955372-76955373	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34355924	chr4:76955387-76955388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112882465	chr4:76955400-76955401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10017431	chr4:76955406-76955407	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs560998601	chr4:76955420-76955421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs67413521	chr4:76955421-76955422	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546778685	chr4:76955463-76955464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10003382	chr4:76955473-76955474	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs532244359	chr4:76955496-76955497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144900973	chr4:76955502-76955503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568848530	chr4:76955504-76955505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs13130018	chr4:76955519-76955520	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs374461004	chr4:76955536-76955537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565809262	chr4:76955575-76955576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs556025947	chr4:76955584-76955585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs13130221	chr4:76955617-76955618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs189121800	chr4:76955648-76955649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553147604	chr4:76955656-76955657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577743253	chr4:76955695-76955696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545469425	chr4:76955698-76955699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs1140834	chr4:76955706-76955707	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368176267	chr4:76955737-76955738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575617996	chr4:76955800-76955801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371562541	chr4:76955823-76955824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370632418	chr4:76955894-76955895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs6532111	chr4:76955914-76955915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs61757197	chr4:76955947-76955948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537293787	chr4:76955957-76955958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540482675	chr4:76955994-76955995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs367653764	chr4:76956002-76956003	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs565055838	chr4:76956020-76956021	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186816745	chr4:76956039-76956040	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550670533	chr4:76956048-76956049	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568810587	chr4:76956084-76956085	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76950200-76957000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:76950800-76956200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:76955600-76956800	Enhancers	GM12878-XiMat	blood
4	chr4:76955800-76958000	Weak transcription	Right Atrium	heart
5	chr4:76956000-76957400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:76956200-76957600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr4:76956600-76957200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr4:76956800-76958400	Enhancers	HUVEC	blood vessel
9	chr4:76957000-76957400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:76957000-76957600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:76957000-76957600	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:76957000-76958200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:76957000-76958400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:76957000-76958400	Enhancers	Pancreas	Pancrea
15	chr4:76957000-76958400	Enhancers	HMEC	breast
16	chr4:76957200-76958200	Enhancers	NHEK	skin
17	chr4:76957200-76958400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:76957200-76958400	Enhancers	K562	blood
19	chr4:76958000-76958200	Enhancers	Right Atrium	heart
20	chr4:76958200-76972600	Weak transcription	Right Atrium	heart
21	chr4:76958400-76963200	Weak transcription	HUVEC	blood vessel

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