Variant report

Variant	esv3486349
Chromosome Location	chr4:637427-642305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:184)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr4:641442-641466	HepG2	liver:	n/a	n/a
2	CBX3	chr4:640330-640691	K562	blood:	n/a	n/a
3	CTCF	chr4:640426-640588	K562	blood:	n/a	n/a
4	CTCF	chr4:640440-640590	BE2_C	brain:	n/a	n/a
5	CTCF	chr4:640300-640450	HVMF	connective:	n/a	n/a
6	CTCF	chr4:640380-640530	HMF	breast:	n/a	n/a
7	CTCF	chr4:640373-640604	K562	blood:	n/a	n/a
8	CTCF	chr4:640460-640610	HMEC	breast:	n/a	n/a
9	CTCF	chr4:640424-640550	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr4:640372-640639	K562	blood:	n/a	n/a
11	CTCF	chr4:640320-640470	HMEC	breast:	n/a	n/a
12	CTCF	chr4:640460-640610	K562	blood:	n/a	n/a
13	CTCF	chr4:640358-640586	K562	blood:	n/a	n/a
14	CTCF	chr4:640260-640410	BE2_C	brain:	n/a	n/a
15	CTCFL	chr4:640392-640616	K562	blood:	n/a	n/a
16	CTCFL	chr4:640371-640569	K562	blood:	n/a	n/a
17	E2F4	chr4:640167-640261	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F6	chr4:642137-642282	K562	blood:	n/a	n/a
19	E2F6	chr4:640298-640599	K562	blood:	n/a	n/a
20	EGR1	chr4:640257-640599	K562	blood:	n/a	n/a
21	EGR1	chr4:640196-640554	K562	blood:	n/a	n/a
22	ELF1	chr4:640301-640720	K562	blood:	n/a	chr4:640522-640535 chr4:640524-640535 chr4:640495-640504
23	ELF1	chr4:640316-640598	K562	blood:	n/a	chr4:640522-640535 chr4:640524-640535 chr4:640495-640504
24	GABPA	chr4:640245-640710	K562	blood:	n/a	n/a
25	HCFC1	chr4:640322-640646	K562	blood:	n/a	n/a
26	HEY1	chr4:640430-640633	K562	blood:	n/a	n/a
27	HMGN3	chr4:640393-640530	K562	blood:	n/a	n/a
28	IRF1	chr4:641935-642218	K562	blood:	n/a	chr4:642054-642071 chr4:642057-642069
29	JUND	chr4:640394-640658	K562	blood:	n/a	n/a
30	MAX	chr4:641941-642096	K562	blood:	n/a	chr4:642029-642038 chr4:642027-642040 chr4:642029-642036 chr4:642027-642040
31	MAX	chr4:640038-640725	K562	blood:	n/a	chr4:640462-640472
32	MAX	chr4:641999-642094	HepG2	liver:	n/a	chr4:642029-642038 chr4:642027-642040 chr4:642029-642036 chr4:642027-642040
33	MAX	chr4:640269-640623	K562	blood:	n/a	chr4:640462-640472
34	MAX	chr4:640377-640585	K562	blood:	n/a	chr4:640462-640472
35	MAX	chr4:641844-642214	K562	blood:	n/a	chr4:642029-642038 chr4:642027-642040 chr4:642029-642036 chr4:642027-642040
36	MAZ	chr4:640356-640648	K562	blood:	n/a	chr4:640462-640472
37	MYC	chr4:640339-640635	K562	blood:	n/a	chr4:640462-640472
38	POLR2A	chr4:640312-640721	K562	blood:	n/a	n/a
39	POLR2A	chr4:638406-638515	HepG2	liver:	n/a	n/a
40	POLR2A	chr4:640347-640574	K562	blood:	n/a	n/a
41	RCOR1	chr4:640463-640528	K562	blood:	n/a	n/a
42	SP2	chr4:640322-640612	K562	blood:	n/a	n/a
43	SP2	chr4:640324-640621	K562	blood:	n/a	n/a
44	TAF1	chr4:640414-640631	K562	blood:	n/a	n/a
45	TBP	chr4:640347-640618	K562	blood:	n/a	n/a
46	TEAD4	chr4:640301-640684	K562	blood:	n/a	n/a
47	UBTF	chr4:640381-640634	K562	blood:	n/a	n/a
48	USF1	chr4:641886-642172	K562	blood:	n/a	chr4:642028-642039
49	USF1	chr4:641885-642143	HepG2	liver:	n/a	chr4:642028-642039
50	USF2	chr4:641936-642109	HepG2	liver:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:640594-640644	A549	lung:	n/a
2	chr4:640594-640644	A549	lung:	n/a
3	chr4:640503-640553	AG09309	skin:	n/a
4	chr4:640594-640644	HepG2	liver:	n/a
5	chr4:640348-640398	H1-hESC	embryonic stem cell:	embryo
6	chr4:640594-640644	PrEC	prostate:	n/a
7	chr4:640503-640553	AoSMC	blood vessel:	n/a
8	chr4:640503-640553	NHDF-neo	bronchial:	n/a
9	chr4:640348-640398	GM12891	blood:	n/a
10	chr4:640594-640644	AG09319	gingival:	n/a
11	chr4:640503-640553	SKMC	muscle:	n/a
12	chr4:640594-640644	HAEpiC	amniotic membrane:	n/a
13	chr4:640503-640553	Jurkat	blood:	n/a
14	chr4:640503-640553	ECC-1	luminal epithelium:	n/a
15	chr4:640594-640644	Hepatocyte	liver:	n/a
16	chr4:640503-640553	U87	brain:	n/a
17	chr4:640348-640398	PFSK-1	brain:	n/a
18	chr4:640348-640398	HPAEpiC	pulmonary alveolar:	n/a
19	chr4:640594-640644	SK-N-SH	brain:	n/a
20	chr4:640503-640553	H1-hESC	embryonic stem cell:	embryo
21	chr4:640594-640644	NT2-D1	testis:	n/a
22	chr4:640594-640644	HMEC	breast:	n/a
23	chr4:640503-640553	ovcar-3	ovarian:	n/a
24	chr4:640503-640553	SK-N-SH_RA	brain:	n/a
25	chr4:640594-640644	HL-60	blood:	n/a
26	chr4:640594-640644	NHDF-neo	bronchial:	n/a
27	chr4:640594-640644	LNCaP	prostate:	n/a
28	chr4:640503-640553	HEK293	kidney:	embryo
29	chr4:640348-640398	SK-N-SH_RA	brain:	n/a
30	chr4:640594-640644	AG10803	skin:	n/a
31	chr4:640348-640398	HCT-116	colon:	n/a
32	chr4:640503-640553	HRCEpiC	kidney:	n/a
33	chr4:640348-640398	ovcar-3	ovarian:	n/a
34	chr4:640503-640553	HIPEpiC	eye:	n/a
35	chr4:640594-640644	NH-A	brain:	n/a
36	chr4:640503-640553	GM12878	blood:	n/a
37	chr4:640503-640553	NT2-D1	testis:	n/a
38	chr4:640503-640553	HCT-116	colon:	n/a
39	chr4:640348-640398	AG10803	skin:	n/a
40	chr4:640348-640398	NH-A	brain:	n/a
41	chr4:640594-640644	Hela-S3	cervix:	n/a
42	chr4:640503-640553	HCF	heart:	n/a
43	chr4:640503-640553	LNCaP	prostate:	n/a
44	chr4:640348-640398	HCPEpiC	choroid plexus:	n/a
45	chr4:640594-640644	HCM	heart:	n/a
46	chr4:640503-640553	HNPCEpiC	eye:	n/a
47	chr4:640594-640644	HPAEpiC	pulmonary alveolar:	n/a
48	chr4:640503-640553	T-47D	breast:	n/a
49	chr4:640503-640553	ProgFib	skin:	n/a
50	chr4:640348-640398	BJ	skin:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:636743..639513-chr4:642400..644519,2	MCF-7	breast:
2	chr4:640175..641727-chr4:663332..665885,2	K562	blood:
3	chr4:636643..638712-chr4:668092..669702,2	MCF-7	breast:
4	chr4:623895..625703-chr4:641254..643295,2	K562	blood:
5	chr4:641525..644066-chr4:652058..654958,2	K562	blood:
6	chr4:642131..644821-chr4:649750..652284,2	MCF-7	breast:
7	chr4:642255..644273-chr4:662905..665187,2	K562	blood:
8	chr4:640899..644048-chr4:645918..649470,4	K562	blood:
9	chr4:642166..643700-chr4:648904..650417,2	MCF-7	breast:
10	chr4:629516..632051-chr4:640070..643057,2	MCF-7	breast:

No data

Variant related genes	Relation type
PDE6B	TF binding region
PDE6B	CpG island
ENSG00000133256	chromatin interactions
ENSG00000169020	chromatin interactions
ENSG00000215375	chromatin interactions
ENSG00000242686	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs571040553	chr4:637463-637464	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs73056586	chr4:637513-637514	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs185067693	chr4:637536-637537	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs574453697	chr4:637552-637553	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs55880620	chr4:637557-637558	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535496232	chr4:637576-637577	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553845228	chr4:637578-637579	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572475336	chr4:637649-637650	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs545963046	chr4:637652-637653	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs564089750	chr4:637694-637695	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs57739128	chr4:637727-637728	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs576204737	chr4:637739-637740	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs548136595	chr4:637817-637818	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs61323506	chr4:637832-637833	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs561970303	chr4:637896-637897	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs534595758	chr4:637897-637898	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs111761741	chr4:637922-637923	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs183962251	chr4:637928-637929	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs10018607	chr4:637952-637953	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs532854284	chr4:637954-637955	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551476593	chr4:637958-637959	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs566169265	chr4:638049-638050	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs570911042	chr4:638181-638182	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538443756	chr4:638243-638244	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs372155816	chr4:638261-638262	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs550051354	chr4:638277-638278	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs145918242	chr4:638295-638296	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs188660056	chr4:638308-638309	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs193266866	chr4:638309-638310	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs553783928	chr4:638314-638315	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs572417830	chr4:638320-638321	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs182879128	chr4:638372-638373	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs555581821	chr4:638382-638383	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs573791150	chr4:638409-638410	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377080402	chr4:638410-638411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535453298	chr4:638430-638431	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538111973	chr4:638431-638432	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs369727643	chr4:638443-638444	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs556208938	chr4:638450-638451	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs138459162	chr4:638456-638457	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs112815488	chr4:638467-638468	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs574020626	chr4:638480-638481	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs187516352	chr4:638561-638562	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs559060595	chr4:638562-638563	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs532946623	chr4:638570-638571	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs551151375	chr4:638574-638575	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs7699579	chr4:638615-638616	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs558378108	chr4:638688-638689	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs191762576	chr4:638696-638697	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs568395707	chr4:638700-638701	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:626400-642000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:631400-657000	Weak transcription	Right Atrium	heart
3	chr4:640000-640200	Enhancers	Placenta	Placenta
4	chr4:640000-640400	Active TSS	Primary T cells from cord blood	blood
5	chr4:640000-640400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr4:640000-640400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr4:640000-640600	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr4:640000-640600	Active TSS	HMEC	breast
9	chr4:640000-640800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
10	chr4:640200-640400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
11	chr4:640200-640400	Flanking Active TSS	Placenta	Placenta
12	chr4:640200-640600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr4:640200-640600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:640200-640600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr4:640200-640800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
16	chr4:640400-640600	Enhancers	Gastric	stomach
17	chr4:640400-643800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:640400-648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:640600-642600	Weak transcription	Gastric	stomach
20	chr4:640800-642200	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr4:641400-641600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr4:641600-642200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr4:641800-642000	Enhancers	HepG2	liver
24	chr4:641800-642200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:641800-642800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:641800-657000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:642000-642200	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr4:642000-642600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:642000-642600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr4:642000-642600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr4:642000-642600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr4:642000-643000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:642000-643200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:642000-643400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:642200-642400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:642200-642400	Enhancers	Brain Anterior Caudate	brain
37	chr4:642200-642400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr4:642200-642400	Flanking Active TSS	HepG2	liver
39	chr4:642200-642800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr4:642200-642800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:642200-643000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:642200-652800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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