Variant report

Variant	rs4484301
Chromosome Location	chr4:6955922-6955923
allele	C/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	JUND	chr4:6955680-6955946	K562	blood:	n/a	n/a
2	TEAD4	chr4:6955662-6956248	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr4:6955889-6956109	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF2	chr4:6955860-6956165	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr4:6955643-6956190	K562	blood:	n/a	chr4:6955838-6955848 chr4:6955841-6955851
6	YY1	chr4:6955747-6956270	H1-hESC	embryonic stem cell:	n/a	chr4:6955834-6955845 chr4:6955843-6955852
7	SIN3AK20	chr4:6955770-6955998	K562	blood:	n/a	n/a
8	EGR1	chr4:6955369-6956269	HCT-116	colon:	n/a	chr4:6955832-6955842 chr4:6955841-6955851 chr4:6955842-6955853 chr4:6955836-6955858 chr4:6955842-6955851 chr4:6955841-6955854 chr4:6955840-6955854 chr4:6955841-6955854 chr4:6955840-6955855 chr4:6955841-6955854 chr4:6955841-6955854
9	EGR1	chr4:6955565-6956153	ECC-1	luminal epithelium:	n/a	chr4:6955832-6955842 chr4:6955841-6955851 chr4:6955842-6955853 chr4:6955836-6955858 chr4:6955842-6955851 chr4:6955841-6955854 chr4:6955840-6955854 chr4:6955841-6955854 chr4:6955840-6955855 chr4:6955841-6955854 chr4:6955841-6955854
10	MAX	chr4:6955710-6956206	HepG2	liver:	n/a	n/a
11	CEBPB	chr4:6955784-6955947	H1-hESC	embryonic stem cell:	n/a	n/a
12	STAT3	chr4:6955569-6955999	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr4:6955398-6956134	HCT-116	colon:	n/a	n/a
14	EP300	chr4:6955578-6956272	ECC-1	luminal epithelium:	n/a	chr4:6955995-6956011
15	YY1	chr4:6955726-6956079	K562	blood:	n/a	chr4:6955834-6955845 chr4:6955843-6955852
16	REST	chr4:6955732-6955927	K562	blood:	n/a	n/a
17	MAX	chr4:6955805-6956228	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr4:6955592-6956336	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZBTB7A	chr4:6955788-6955965	K562	blood:	n/a	n/a
20	SIN3A	chr4:6955594-6956121	H1-hESC	embryonic stem cell:	n/a	chr4:6955834-6955845
21	MAX	chr4:6955370-6956381	ECC-1	luminal epithelium:	n/a	n/a
22	MYC	chr4:6955834-6956038	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr4:6955508-6955962	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F6	chr4:6955553-6956369	H1-hESC	embryonic stem cell:	n/a	chr4:6955838-6955848 chr4:6955841-6955851
25	ZNF384	chr4:6955359-6956022	K562	blood:	n/a	n/a
26	MAX	chr4:6955574-6956269	H1-hESC	embryonic stem cell:	n/a	n/a
27	FOS	chr4:6955484-6955932	MCF10A-Er-Src	breast:	n/a	chr4:6955525-6955533 chr4:6955526-6955537
28	MAX	chr4:6955422-6956271	K562	blood:	n/a	n/a
29	POLR2A	chr4:6955860-6956127	K562	blood:	n/a	n/a
30	MXI1	chr4:6955728-6956052	H1-hESC	embryonic stem cell:	n/a	n/a
31	GABPA	chr4:6955785-6956122	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr4:6955726-6956173	K562	blood:	n/a	n/a
33	MAZ	chr4:6955629-6956113	K562	blood:	n/a	n/a
34	MAX	chr4:6955313-6956336	HCT-116	colon:	n/a	n/a
35	TCF12	chr4:6955614-6956370	ECC-1	luminal epithelium:	n/a	chr4:6955956-6955964 chr4:6955838-6955848
36	E2F6	chr4:6955661-6956327	H1-hESC	embryonic stem cell:	n/a	chr4:6955838-6955848 chr4:6955841-6955851
37	GATA3	chr4:6955792-6956180	T-47D	breast:	n/a	n/a
38	MAX	chr4:6955437-6956361	ECC-1	luminal epithelium:	n/a	n/a
39	TCF12	chr4:6955537-6956369	ECC-1	luminal epithelium:	n/a	chr4:6955956-6955964 chr4:6955838-6955848
40	TCF12	chr4:6955689-6956160	H1-hESC	embryonic stem cell:	n/a	chr4:6955956-6955964 chr4:6955838-6955848
41	EGR1	chr4:6955655-6955990	K562	blood:	n/a	chr4:6955832-6955842 chr4:6955841-6955851 chr4:6955842-6955853 chr4:6955836-6955858 chr4:6955842-6955851 chr4:6955841-6955854 chr4:6955840-6955854 chr4:6955841-6955854 chr4:6955840-6955855 chr4:6955841-6955854 chr4:6955841-6955854
42	USF1	chr4:6955450-6956192	ECC-1	luminal epithelium:	n/a	n/a
43	MYC	chr4:6955583-6956126	K562	blood:	n/a	n/a
44	TCF12	chr4:6955737-6956052	H1-hESC	embryonic stem cell:	n/a	chr4:6955956-6955964 chr4:6955838-6955848
45	EGR1	chr4:6955642-6956088	H1-hESC	embryonic stem cell:	n/a	chr4:6955832-6955842 chr4:6955841-6955851 chr4:6955842-6955853 chr4:6955836-6955858 chr4:6955842-6955851 chr4:6955841-6955854 chr4:6955840-6955854 chr4:6955841-6955854 chr4:6955840-6955855 chr4:6955841-6955854 chr4:6955841-6955854
46	ELF1	chr4:6955634-6955963	K562	blood:	n/a	chr4:6955839-6955851
47	MAX	chr4:6955786-6956182	MCF-7	breast:	n/a	n/a
48	HMGN3	chr4:6955557-6956024	K562	blood:	n/a	n/a
49	POLR2A	chr4:6955891-6956071	H1-hESC	embryonic stem cell:	n/a	n/a
50	EGR1	chr4:6955318-6956274	HCT-116	colon:	n/a	chr4:6955832-6955842 chr4:6955841-6955851 chr4:6955842-6955853 chr4:6955836-6955858 chr4:6955842-6955851 chr4:6955841-6955854 chr4:6955840-6955854 chr4:6955841-6955854 chr4:6955840-6955855 chr4:6955841-6955854 chr4:6955841-6955854

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:6910837..6912550-chr4:6955221..6957525,2	MCF-7	breast:

Variant related genes	Relation type
TBC1D14	TF binding region
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10009332	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10012305	0.81[ASN][1000 genomes]
rs10013211	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10013696	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10015163	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10019256	0.82[EUR][1000 genomes]
rs10019900	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10022657	0.96[CEU][hapmap];0.83[YRI][hapmap]
rs10022869	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10032908	0.96[CEU][hapmap]
rs10155208	0.91[EUR][1000 genomes]
rs10804990	0.95[JPT][hapmap]
rs10937762	0.95[JPT][hapmap]
rs10937763	0.95[JPT][hapmap]
rs10937766	0.85[ASN][1000 genomes]
rs10937768	0.84[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10937769	0.92[ASN][1000 genomes]
rs10937770	0.81[ASN][1000 genomes]
rs10937771	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11723651	0.81[ASN][1000 genomes]
rs11723686	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11723719	0.81[ASN][1000 genomes]
rs11728984	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11731639	0.81[ASN][1000 genomes]
rs11731681	0.91[ASN][1000 genomes]
rs11732389	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11732887	0.84[ASN][1000 genomes]
rs11733522	0.83[ASN][1000 genomes]
rs11736355	0.81[ASN][1000 genomes]
rs12119	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs12499678	0.81[ASN][1000 genomes]
rs12512922	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12646620	0.87[ASN][1000 genomes]
rs12646621	0.87[ASN][1000 genomes]
rs12648134	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs12650200	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12650264	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs13103361	0.87[ASN][1000 genomes]
rs13140943	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13435015	0.85[JPT][hapmap]
rs17742611	0.96[CEU][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17743234	0.96[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2301820	0.90[CEU][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.89[EUR][1000 genomes]
rs2301821	0.89[EUR][1000 genomes]
rs28380685	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28392702	0.91[ASN][1000 genomes]
rs28425595	0.81[ASN][1000 genomes]
rs28463777	0.87[ASN][1000 genomes]
rs28523495	0.87[ASN][1000 genomes]
rs28703753	0.83[ASN][1000 genomes]
rs34173965	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35296019	0.85[ASN][1000 genomes]
rs35490604	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35772786	0.80[EUR][1000 genomes]
rs3857168	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3857169	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3857170	0.96[CEU][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3892145	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3892976	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41516949	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4234790	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4290891	0.84[ASN][1000 genomes]
rs4315786	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4346651	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs4432749	0.86[JPT][hapmap]
rs4608812	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4689558	0.95[JPT][hapmap]
rs4689562	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4689571	0.89[EUR][1000 genomes]
rs4689572	0.96[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56307635	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61488923	0.81[ASN][1000 genomes]
rs62292202	0.81[ASN][1000 genomes]
rs6446552	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs6446553	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6831368	0.89[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6831590	0.83[ASN][1000 genomes]
rs6834007	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6848114	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs6852468	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7664348	0.83[ASN][1000 genomes]
rs7668673	0.85[JPT][hapmap]
rs7672632	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9291121	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9291122	0.86[ASN][1000 genomes]
rs9291123	0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9291124	0.81[ASN][1000 genomes]
rs9790586	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs9999127	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	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
3	esv3368478	chr4:6954301-6956199	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
2	chr4:6945000-6970200	Weak transcription	Hela-S3	cervix
3	chr4:6945800-6965800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:6946600-6969000	Weak transcription	Dnd41	blood
5	chr4:6948600-6962400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:6950200-6956600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:6950400-6963800	Weak transcription	Small Intestine	intestine
8	chr4:6953600-6960600	Enhancers	Fetal Thymus	thymus
9	chr4:6953800-6956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:6953800-6960000	Enhancers	Placenta	Placenta
11	chr4:6954000-6957600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:6954000-6964000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:6954200-6956000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:6954200-6956800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:6954200-6957800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:6954200-6958000	Weak transcription	Thymus	Thymus
17	chr4:6954200-6958800	Weak transcription	Primary T cells from cord blood	blood
18	chr4:6954400-6956600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:6954400-6957800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr4:6954400-6965800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:6954600-6957000	Weak transcription	Brain Anterior Caudate	brain
22	chr4:6954600-6957800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr4:6954600-6958000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:6954600-6958200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:6954600-6958200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:6954600-6958400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr4:6954600-6958400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr4:6954600-6958400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:6954800-6962800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr4:6955000-6962600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:6955200-6956200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr4:6955200-6957800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr4:6955400-6956000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr4:6955400-6956000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:6955400-6956000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:6955400-6956000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:6955400-6956000	Flanking Active TSS	Colonic Mucosa	Colon
38	chr4:6955400-6956000	Enhancers	Fetal Lung	lung
39	chr4:6955400-6956000	Enhancers	Psoas Muscle	Psoas
40	chr4:6955400-6956000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr4:6955400-6956000	Flanking Active TSS	NHLF	lung
42	chr4:6955400-6956000	Flanking Active TSS	Osteobl	bone
43	chr4:6955400-6956200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:6955400-6956200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:6955400-6956200	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr4:6955400-6956200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:6955400-6956200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:6955400-6956200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:6955400-6956200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:6955400-6956200	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links