Variant report

Variant	esv1811458
Chromosome Location	chr4:638840-642251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:183)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 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	chr4:640424-640550	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr4:640260-640410	BE2_C	brain:	n/a	n/a
5	CTCF	chr4:640380-640530	HMF	breast:	n/a	n/a
6	CTCF	chr4:640300-640450	HVMF	connective:	n/a	n/a
7	CTCF	chr4:640440-640590	BE2_C	brain:	n/a	n/a
8	CTCF	chr4:640372-640639	K562	blood:	n/a	n/a
9	CTCF	chr4:640426-640588	K562	blood:	n/a	n/a
10	CTCF	chr4:640460-640610	K562	blood:	n/a	n/a
11	CTCF	chr4:640373-640604	K562	blood:	n/a	n/a
12	CTCF	chr4:640460-640610	HMEC	breast:	n/a	n/a
13	CTCF	chr4:640320-640470	HMEC	breast:	n/a	n/a
14	CTCF	chr4:640358-640586	K562	blood:	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	chr4:640196-640554	K562	blood:	n/a	n/a
21	EGR1	chr4:640257-640599	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	chr4:640038-640725	K562	blood:	n/a	chr4:640462-640472
31	MAX	chr4:640269-640623	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	chr4:641941-642096	K562	blood:	n/a	chr4:642029-642038 chr4:642027-642040 chr4:642029-642036 chr4:642027-642040
34	MAX	chr4:641844-642214	K562	blood:	n/a	chr4:642029-642038 chr4:642027-642040 chr4:642029-642036 chr4:642027-642040
35	MAX	chr4:640377-640585	K562	blood:	n/a	chr4:640462-640472
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	chr4:640347-640574	K562	blood:	n/a	n/a
40	RCOR1	chr4:640463-640528	K562	blood:	n/a	n/a
41	SP2	chr4:640322-640612	K562	blood:	n/a	n/a
42	SP2	chr4:640324-640621	K562	blood:	n/a	n/a
43	TAF1	chr4:640414-640631	K562	blood:	n/a	n/a
44	TBP	chr4:640347-640618	K562	blood:	n/a	n/a
45	TEAD4	chr4:640301-640684	K562	blood:	n/a	n/a
46	UBTF	chr4:640381-640634	K562	blood:	n/a	n/a
47	USF1	chr4:641885-642143	HepG2	liver:	n/a	chr4:642028-642039
48	USF1	chr4:641886-642172	K562	blood:	n/a	chr4:642028-642039
49	USF2	chr4:641936-642109	HepG2	liver:	n/a	n/a
50	YY1	chr4:640412-640612	K562	blood:	n/a	chr4:640495-640504

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:640503-640553	ovcar-3	ovarian:	n/a
2	chr4:640503-640553	MCF-7	breast:	n/a
3	chr4:640503-640553	BJ	skin:	n/a
4	chr4:640594-640644	LNCaP	prostate:	n/a
5	chr4:640503-640553	Jurkat	blood:	n/a
6	chr4:640503-640553	HAEpiC	amniotic membrane:	n/a
7	chr4:640594-640644	Hela-S3	cervix:	n/a
8	chr4:640348-640398	NHBE	bronchial:	n/a
9	chr4:640594-640644	NH-A	brain:	n/a
10	chr4:640594-640644	HCPEpiC	choroid plexus:	n/a
11	chr4:640348-640398	GM12878	blood:	n/a
12	chr4:640594-640644	SK-N-MC	brain:	n/a
13	chr4:640348-640398	GM19239	blood:	n/a
14	chr4:640503-640553	SK-N-SH_RA	brain:	n/a
15	chr4:640503-640553	GM19239	blood:	n/a
16	chr4:640594-640644	HRPEpiC	eye:	n/a
17	chr4:640503-640553	AG09309	skin:	n/a
18	chr4:640348-640398	AG10803	skin:	n/a
19	chr4:640594-640644	NHDF-neo	bronchial:	n/a
20	chr4:640594-640644	SK-N-SH_RA	brain:	n/a
21	chr4:640503-640553	HCF	heart:	n/a
22	chr4:640348-640398	HepG2	liver:	n/a
23	chr4:640594-640644	HEEpiC	esophagus:	n/a
24	chr4:640503-640553	SAEC	small airway:	n/a
25	chr4:640503-640553	AG09319	gingival:	n/a
26	chr4:640348-640398	NH-A	brain:	n/a
27	chr4:640503-640553	BE2_C	brain:	n/a
28	chr4:640503-640553	HRCEpiC	kidney:	n/a
29	chr4:640503-640553	HNPCEpiC	eye:	n/a
30	chr4:640348-640398	HL-60	blood:	n/a
31	chr4:640503-640553	HUVEC	blood vessel:	n/a
32	chr4:640594-640644	HPAEpiC	pulmonary alveolar:	n/a
33	chr4:640348-640398	AoSMC	blood vessel:	n/a
34	chr4:640348-640398	ovcar-3	ovarian:	n/a
35	chr4:640348-640398	SK-N-MC	brain:	n/a
36	chr4:640348-640398	A549	lung:	n/a
37	chr4:640348-640398	ProgFib	skin:	n/a
38	chr4:640594-640644	PFSK-1	brain:	n/a
39	chr4:640594-640644	NB4	blood:	n/a
40	chr4:640503-640553	AG10803	skin:	n/a
41	chr4:640594-640644	AoSMC	blood vessel:	n/a
42	chr4:640503-640553	U87	brain:	n/a
43	chr4:640594-640644	A549	lung:	n/a
44	chr4:640503-640553	AoSMC	blood vessel:	n/a
45	chr4:640503-640553	HEK293	kidney:	embryo
46	chr4:640348-640398	HMEC	breast:	n/a
47	chr4:640594-640644	HMEC	breast:	n/a
48	chr4:640348-640398	HUVEC	blood vessel:	n/a
49	chr4:640503-640553	T-47D	breast:	n/a
50	chr4:640503-640553	NB4	blood:	n/a

(count:8 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 126 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557959835	chr4:638855-638856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570162260	chr4:638904-638905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188236312	chr4:638955-638956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555567304	chr4:639015-639016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573906920	chr4:639039-639040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192438931	chr4:639055-639056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568112220	chr4:639080-639081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530937075	chr4:639083-639084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544593888	chr4:639108-639109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369038920	chr4:639124-639125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372948460	chr4:639145-639146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553395326	chr4:639209-639210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545034012	chr4:639211-639212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563213858	chr4:639229-639230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530551746	chr4:639246-639247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184574581	chr4:639308-639309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561918128	chr4:639330-639331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529448233	chr4:639364-639365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147993485	chr4:639383-639384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114862883	chr4:639429-639430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533152992	chr4:639466-639467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190252536	chr4:639543-639544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570082075	chr4:639593-639594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537515519	chr4:639643-639644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10031745	chr4:639670-639671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567430697	chr4:639675-639676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534857798	chr4:639682-639683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552990888	chr4:639824-639825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577895367	chr4:639848-639849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544660197	chr4:639933-639934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556879100	chr4:639935-639936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574913109	chr4:639995-639996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542268825	chr4:640048-640049	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560658836	chr4:640085-640086	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182432965	chr4:640100-640101	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542348670	chr4:640105-640106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113845396	chr4:640108-640109	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559781996	chr4:640121-640122	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10010598	chr4:640165-640166	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142327412	chr4:640185-640186	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199688757	chr4:640223-640224	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs539997235	chr4:640277-640278	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs563629935	chr4:640298-640299	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs531831953	chr4:640318-640319	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs530940238	chr4:640327-640328	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs549492310	chr4:640345-640346	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs567808818	chr4:640381-640382	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs534495516	chr4:640412-640413	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs146163001	chr4:640413-640414	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs571366041	chr4:640419-640420	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region	1 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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