Variant report

Variant	rs7655563
Chromosome Location	chr4:6993937-6993938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr4:6993456-6994213	MCF10A-Er-Src	breast:	n/a	chr4:6993625-6993633 chr4:6993625-6993632
2	STAT3	chr4:6993520-6994011	MCF10A-Er-Src	breast:	n/a	chr4:6993727-6993739
3	MXI1	chr4:6992776-6994296	IMR90	lung:	n/a	n/a
4	POLR2A	chr4:6993748-6994321	K562	blood:	n/a	n/a
5	MYC	chr4:6993454-6994131	MCF10A-Er-Src	breast:	n/a	n/a
6	CTCF	chr4:6993820-6993970	AG09309	skin:	n/a	n/a
7	MAFK	chr4:6993401-6993972	IMR90	lung:	n/a	n/a
8	MYC	chr4:6993488-6994144	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr4:6993349-6993942	MCF10A-Er-Src	breast:	n/a	chr4:6993625-6993633 chr4:6993625-6993632
10	STAT3	chr4:6993467-6994041	MCF10A-Er-Src	breast:	n/a	chr4:6993727-6993739
11	MAX	chr4:6993464-6993948	SK-N-SH	brain:	n/a	n/a
12	NFIC	chr4:6993314-6994045	SK-N-SH	brain:	n/a	chr4:6993682-6993699 chr4:6993682-6993698
13	POLR2A	chr4:6992742-6995081	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr4:6993406-6993945	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr4:6993465-6994104	MCF10A-Er-Src	breast:	n/a	chr4:6993625-6993633 chr4:6993625-6993632
16	STAT3	chr4:6993416-6993985	MCF10A-Er-Src	breast:	n/a	chr4:6993727-6993739
17	CEBPB	chr4:6993528-6993982	IMR90	lung:	n/a	n/a
18	E2F4	chr4:6993588-6994022	MCF10A-Er-Src	breast:	n/a	n/a
19	RAD21	chr4:6993422-6993994	IMR90	lung:	n/a	n/a
20	FOS	chr4:6993459-6994201	MCF10A-Er-Src	breast:	n/a	chr4:6993625-6993633 chr4:6993625-6993632

No.	Distal block	Cell Line	Cell type
1	chr4:6993091..6995373-chr4:7043423..7046431,3	MCF-7	breast:
2	chr4:6992471..6995105-chr4:7038359..7040025,2	MCF-7	breast:
3	chr4:6988129..6989921-chr4:6992421..6994173,2	K562	blood:

Variant related genes	Relation type
RN7SKP292	TF binding region
TBC1D14	TF binding region
ENSG00000187904	TF binding region
ENSG00000173013	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000173011	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10012590	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10025310	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10516181	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10937772	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10937774	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs10937776	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11732898	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11938701	0.81[ASN][1000 genomes]
rs11944897	0.81[ASN][1000 genomes]
rs12502513	1.00[CHB][hapmap]
rs12503027	0.81[ASN][1000 genomes]
rs13107989	0.81[ASN][1000 genomes]
rs13122119	1.00[CHB][hapmap]
rs13135912	0.82[EUR][1000 genomes]
rs13148395	0.81[ASN][1000 genomes]
rs2301817	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2359194	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3188939	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs34219101	0.94[ASN][1000 genomes]
rs34221933	0.81[ASN][1000 genomes]
rs3857171	0.88[ASN][1000 genomes]
rs3892490	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3894945	0.81[ASN][1000 genomes]
rs4234791	1.00[CHB][hapmap]
rs4234793	0.81[ASN][1000 genomes]
rs4296677	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4428285	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs4458452	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4544710	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs4645214	0.82[CEU][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4689059	0.85[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4689060	0.82[EUR][1000 genomes]
rs4689560	1.00[CHB][hapmap]
rs4689568	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4689573	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4689575	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs55822670	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62289166	0.81[ASN][1000 genomes]
rs6811496	0.81[ASN][1000 genomes]
rs6816882	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6818744	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs6831129	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6834102	0.81[ASN][1000 genomes]
rs6840780	0.81[ASN][1000 genomes]
rs6854776	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7655773	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7658198	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7661462	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs7661952	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7673901	0.81[ASN][1000 genomes]
rs7675524	1.00[CHB][hapmap]
rs7685667	0.81[ASN][1000 genomes]
rs7693321	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8180337	0.85[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6989600-6994400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:6989800-6994000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr4:6989800-6998000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:6990000-6994200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:6990000-6997400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:6990200-6994400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr4:6990200-6995200	Enhancers	Brain Substantia Nigra	brain
8	chr4:6990200-6995800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:6990400-6994200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr4:6990400-6994200	Enhancers	Psoas Muscle	Psoas
11	chr4:6990400-6994400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:6990400-6994600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:6990400-7008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:6990600-6994400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr4:6990600-6995600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:6991000-6994200	Genic enhancers	Fetal Muscle Leg	muscle
17	chr4:6991000-6994400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:6991000-6994400	Weak transcription	Fetal Kidney	kidney
19	chr4:6991000-7021800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:6991200-6995200	Weak transcription	Placenta	Placenta
21	chr4:6991200-6995400	Enhancers	Brain Hippocampus Middle	brain
22	chr4:6991200-6995800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:6991200-6996000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr4:6991400-6995400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:6991400-6996000	Weak transcription	Fetal Lung	lung
26	chr4:6991400-7000800	Weak transcription	Colonic Mucosa	Colon
27	chr4:6991600-6994000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:6991600-6994200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:6991600-6994400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:6991600-7000000	Weak transcription	Hela-S3	cervix
31	chr4:6991800-6995200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:6991800-6995800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:6991800-6995800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:6992000-6994400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr4:6992200-6994000	Genic enhancers	Brain Germinal Matrix	brain
36	chr4:6992200-6994000	Enhancers	Left Ventricle	heart
37	chr4:6992200-6994200	Enhancers	Fetal Heart	heart
38	chr4:6992200-6994600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr4:6992200-6994800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr4:6992200-6995400	Genic enhancers	Fetal Thymus	thymus
41	chr4:6992200-6995600	Enhancers	Primary B cells from cord blood	blood
42	chr4:6992400-6994000	Enhancers	Primary hematopoietic stem cells	blood
43	chr4:6992400-6994200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr4:6992400-6994200	Strong transcription	Fetal Intestine Large	intestine
45	chr4:6992400-6994200	Enhancers	Right Ventricle	heart
46	chr4:6992400-6994400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:6992400-6994600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:6992400-6994600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr4:6992400-6994600	Enhancers	Duodenum Mucosa	Duodenum
50	chr4:6992400-6995000	Genic enhancers	K562	blood

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