Variant report

Variant	esv2757081
Chromosome Location	chr4:125637940-125649621
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:125645349-125645375	K562	blood:	n/a	n/a
2	CEBPB	chr4:125640129-125640446	K562	blood:	n/a	n/a
3	CEBPB	chr4:125640135-125640372	HepG2	liver:	n/a	n/a
4	CEBPB	chr4:125640102-125640475	K562	blood:	n/a	n/a
5	CEBPB	chr4:125640060-125640497	HCT-116	colon:	n/a	n/a
6	CEBPB	chr4:125640145-125640329	K562	blood:	n/a	n/a
7	CEBPB	chr4:125641790-125641917	K562	blood:	n/a	chr4:125641864-125641881 chr4:125641865-125641876 chr4:125641865-125641878
8	CTCF	chr4:125640060-125640210	GM12866	blood:	n/a	n/a
9	CTCF	chr4:125640080-125640230	GM12873	blood:	n/a	n/a
10	CTCF	chr4:125640040-125640190	AG04449	skin:	n/a	n/a
11	CTCF	chr4:125640040-125640190	GM12871	blood:	n/a	n/a
12	CTCF	chr4:125640260-125640410	GM12866	blood:	n/a	n/a
13	CTCF	chr4:125640040-125640190	GM12864	blood:	n/a	n/a
14	CTCF	chr4:125640020-125640170	GM12874	blood:	n/a	n/a
15	CTCF	chr4:125640040-125640190	GM12873	blood:	n/a	n/a
16	CTCF	chr4:125640060-125640210	GM12871	blood:	n/a	n/a
17	CTCF	chr4:125640080-125640230	GM12868	blood:	n/a	n/a
18	CTCF	chr4:125640160-125640310	HepG2	liver:	n/a	n/a
19	CTCF	chr4:125640160-125640310	HMF	breast:	n/a	n/a
20	CTCF	chr4:125640160-125640310	GM12872	blood:	n/a	n/a
21	CTCF	chr4:125640040-125640190	AG04450	lung:	n/a	n/a
22	CTCF	chr4:125640080-125640230	HCT-116	colon:	n/a	n/a
23	CTCF	chr4:125640154-125640181	K562	blood:	n/a	n/a
24	CTCF	chr4:125640080-125640230	GM12869	blood:	n/a	n/a
25	CTCF	chr4:125640100-125640250	MCF-7	breast:	n/a	n/a
26	CTCF	chr4:125640040-125640190	GM12865	blood:	n/a	n/a
27	CTCF	chr4:125640166-125640177	GM19240	blood:	n/a	n/a
28	CTCF	chr4:125640140-125640290	GM12875	blood:	n/a	n/a
29	CTCF	chr4:125640100-125640250	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr4:125640106-125640219	A549	lung:	n/a	n/a
31	CTCF	chr4:125640040-125640190	GM12878	blood:	n/a	n/a
32	CTCF	chr4:125640040-125640190	HMF	breast:	n/a	n/a
33	CTCF	chr4:125640080-125640230	GM12872	blood:	n/a	n/a
34	CTCF	chr4:125640080-125640230	GM12867	blood:	n/a	n/a
35	CTCF	chr4:125640280-125640430	A549	lung:	n/a	n/a
36	CTCF	chr4:125639961-125640332	K562	blood:	n/a	n/a
37	CTCF	chr4:125640100-125640250	Caco-2	colon:	n/a	n/a
38	CTCF	chr4:125640101-125640243	HepG2	liver:	n/a	n/a
39	CTCF	chr4:125640148-125640190	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr4:125640260-125640410	GM06990	blood:	n/a	n/a
41	CTCF	chr4:125640080-125640230	GM12864	blood:	n/a	n/a
42	CTCF	chr4:125640160-125640310	K562	blood:	n/a	n/a
43	CTCF	chr4:125640075-125640226	HepG2	liver:	n/a	n/a
44	CTCF	chr4:125640180-125640330	HepG2	liver:	n/a	n/a
45	CTCF	chr4:125640180-125640330	GM12873	blood:	n/a	n/a
46	CTCF	chr4:125640069-125640297	K562	blood:	n/a	n/a
47	CTCF	chr4:125639992-125640362	K562	blood:	n/a	n/a
48	E2F4	chr4:125644776-125644916	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr4:125647501-125647922	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr4:125647565-125647908	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:125638274-125638324	AoSMC	blood vessel:	n/a
2	chr4:125638274-125638324	HRPEpiC	eye:	n/a
3	chr4:125638274-125638324	GM12878	blood:	n/a
4	chr4:125638274-125638324	NH-A	brain:	n/a
5	chr4:125638274-125638324	BE2_C	brain:	n/a
6	chr4:125638274-125638324	NB4	blood:	n/a
7	chr4:125638274-125638324	AG10803	skin:	n/a
8	chr4:125638274-125638324	GM06990	blood:	n/a
9	chr4:125638274-125638324	SKMC	muscle:	n/a
10	chr4:125638274-125638324	NHDF-neo	bronchial:	n/a
11	chr4:125638274-125638324	Hepatocyte	liver:	n/a
12	chr4:125638274-125638324	RPTEC	kidney:	n/a
13	chr4:125638274-125638324	HepG2	liver:	n/a
14	chr4:125638274-125638324	HIPEpiC	eye:	n/a
15	chr4:125638274-125638324	HCT-116	colon:	n/a
16	chr4:125638274-125638324	Hela-S3	cervix:	n/a
17	chr4:125638274-125638324	HRE	kidney:	n/a
18	chr4:125638274-125638324	HL-60	blood:	n/a
19	chr4:125638274-125638324	MCF10A-Er-Src	breast:	n/a
20	chr4:125638274-125638324	Caco-2	colon:	n/a
21	chr4:125638274-125638324	SK-N-MC	brain:	n/a
22	chr4:125638274-125638324	GM19239	blood:	n/a
23	chr4:125638274-125638324	AG04450	lung:	fetal
24	chr4:125638274-125638324	HMEC	breast:	n/a
25	chr4:125638274-125638324	HAEpiC	amniotic membrane:	n/a
26	chr4:125638274-125638324	A549	lung:	n/a
27	chr4:125638274-125638324	HCM	heart:	n/a
28	chr4:125638274-125638324	SK-N-SH_RA	brain:	n/a
29	chr4:125638274-125638324	CMK	blood:	n/a
30	chr4:125638274-125638324	GM12892	blood:	n/a
31	chr4:125638274-125638324	HEEpiC	esophagus:	n/a
32	chr4:125638274-125638324	K562	blood:	n/a
33	chr4:125638274-125638324	ovcar-3	ovarian:	n/a
34	chr4:125638274-125638324	NT2-D1	testis:	n/a
35	chr4:125638274-125638324	AG04449	skin:	fetal
36	chr4:125638274-125638324	HCPEpiC	choroid plexus:	n/a
37	chr4:125638274-125638324	AG09309	skin:	n/a
38	chr4:125638274-125638324	T-47D	breast:	n/a
39	chr4:125638274-125638324	LNCaP	prostate:	n/a
40	chr4:125638274-125638324	H1-hESC	embryonic stem cell:	embryo
41	chr4:125638274-125638324	ProgFib	skin:	n/a
42	chr4:125638274-125638324	HCF	heart:	n/a
43	chr4:125638274-125638324	HRCEpiC	kidney:	n/a
44	chr4:125638274-125638324	HUVEC	blood vessel:	n/a
45	chr4:125638274-125638324	SK-N-SH	brain:	n/a
46	chr4:125638274-125638324	BJ	skin:	n/a
47	chr4:125638274-125638324	Jurkat	blood:	n/a
48	chr4:125638274-125638324	IMR90	lung:	fetal
49	chr4:125638274-125638324	AG09319	gingival:	n/a
50	chr4:125638274-125638324	NHBE	bronchial:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:125641922..125644236-chr4:125647065..125649623,2	MCF-7	breast:
2	chr4:125638392..125640258-chr4:125657557..125660546,2	MCF-7	breast:
3	chr4:125644097..125646072-chr4:125648999..125650818,2	MCF-7	breast:
4	chr4:125641922..125644236-chr4:125647065..125649623,2	MCF-7	breast:
5	chr4:125635481..125637257-chr4:125647844..125649623,2	K562	blood:
6	chr4:125642176..125644538-chr4:125687368..125689937,2	MCF-7	breast:
7	chr4:125639869..125641790-chr4:125860741..125863223,2	MCF-7	breast:
8	chr4:125631965..125635401-chr4:125643572..125647788,6	MCF-7	breast:
9	chr4:125634681..125637272-chr4:125648619..125650581,2	MCF-7	breast:
10	chr4:125585555..125587922-chr4:125647750..125649339,2	K562	blood:
11	chr4:125633520..125636549-chr4:125645443..125647612,3	K562	blood:
12	chr4:125634057..125636507-chr4:125646321..125649119,3	MCF-7	breast:
13	chr4:125631979..125634055-chr4:125640658..125642970,2	MCF-7	breast:
14	chr4:125644097..125646072-chr4:125648999..125650818,2	MCF-7	breast:
15	chr4:125632759..125636497-chr4:125636675..125640735,7	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD50-7	chr4:125640547-125641599	ucscGeneNc_uc003ife_1
2	lnc-ANKRD50-7	chr4:125644855-125645015	ucscGeneNc_uc003ife_1

No data

Variant related genes	Relation type
ANKRD50	TF binding region
ANKRD50	CpG island
ENSG00000151458	chromatin interactions

Extended variants
information (count: 395 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17008503	chr4:125637940-125637941	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548079338	chr4:125637947-125637948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566386376	chr4:125637966-125637967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190531854	chr4:125637996-125637997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139071464	chr4:125638013-125638014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs114358230	chr4:125638047-125638048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537987618	chr4:125638063-125638064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182738780	chr4:125638117-125638118	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547777893	chr4:125638123-125638124	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7695971	chr4:125638132-125638133	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574937417	chr4:125638148-125638149	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs9997688	chr4:125638202-125638203	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs554522300	chr4:125638271-125638272	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs149030979	chr4:125638275-125638276	Weak transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs145182294	chr4:125638314-125638315	Weak transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs187292246	chr4:125638324-125638325	Weak transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs376539904	chr4:125638344-125638345	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532122006	chr4:125638408-125638409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544025989	chr4:125638422-125638423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377515831	chr4:125638441-125638442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562559771	chr4:125638588-125638589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529860416	chr4:125638608-125638609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547948913	chr4:125638612-125638613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566453533	chr4:125638648-125638649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs72931241	chr4:125638671-125638672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552037591	chr4:125638675-125638676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570798526	chr4:125638712-125638713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538192353	chr4:125638765-125638766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556391045	chr4:125638773-125638774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191695938	chr4:125638822-125638823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs80135458	chr4:125638823-125638824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370756539	chr4:125638865-125638866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539094954	chr4:125638878-125638879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374812697	chr4:125638879-125638880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs146872370	chr4:125638924-125638925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs1874747	chr4:125638980-125638981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573465738	chr4:125639033-125639034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs546558248	chr4:125639046-125639047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140677356	chr4:125639064-125639065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76921827	chr4:125639074-125639075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544156717	chr4:125639096-125639097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184658136	chr4:125639106-125639107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529714483	chr4:125639145-125639146	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs79265298	chr4:125639149-125639150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541504436	chr4:125639163-125639164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145764215	chr4:125639164-125639165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs527474256	chr4:125639228-125639229	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs552236395	chr4:125639247-125639248	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148115251	chr4:125639301-125639302	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531623692	chr4:125639315-125639316	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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
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
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
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125634800-125639200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:125635000-125638000	Weak transcription	Dnd41	blood
3	chr4:125635000-125639800	Weak transcription	HepG2	liver
4	chr4:125635000-125644800	Weak transcription	NHDF-Ad	bronchial
5	chr4:125635200-125638200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:125635200-125648000	Weak transcription	HSMM	muscle
7	chr4:125638000-125639200	Enhancers	Dnd41	blood
8	chr4:125639200-125639600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:125639400-125640000	Enhancers	K562	blood
10	chr4:125639800-125640000	Enhancers	HepG2	liver
11	chr4:125643200-125643800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:125643400-125643600	Enhancers	HSMMtube	muscle
13	chr4:125643400-125643800	Enhancers	Fetal Heart	heart
14	chr4:125643400-125645400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:125643600-125644400	Weak transcription	HSMMtube	muscle
16	chr4:125644400-125645200	Enhancers	HSMMtube	muscle
17	chr4:125644800-125645200	Enhancers	NHDF-Ad	bronchial
18	chr4:125648600-125648800	Enhancers	HSMM	muscle

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