Variant report

Variant	rs17265233
Chromosome Location	chr4:119991693-119991694
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	STAT3	chr4:119991450-119991772	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr4:119991503-119991724	HepG2	liver:	n/a	chr4:119991609-119991620
3	CEBPB	chr4:119991437-119991779	A549	lung:	n/a	chr4:119991609-119991620
4	FOS	chr4:119991528-119991734	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr4:119991525-119991746	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr4:119991554-119991855	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPD	chr4:119991496-119991722	HepG2	liver:	n/a	n/a
8	MYC	chr4:119991479-119991825	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr4:119991443-119991777	HepG2	liver:	n/a	chr4:119991609-119991620
10	CEBPB	chr4:119991460-119991858	MCF-7	breast:	n/a	chr4:119991609-119991620
11	CEBPB	chr4:119991475-119991698	HepG2	liver:	n/a	chr4:119991609-119991620
12	CEBPB	chr4:119991439-119991800	HepG2	liver:	n/a	chr4:119991609-119991620
13	MAX	chr4:119991512-119991700	NB4	blood:	n/a	n/a
14	FOS	chr4:119991557-119991805	MCF10A-Er-Src	breast:	n/a	n/a
15	MYC	chr4:119991517-119991836	MCF10A-Er-Src	breast:	n/a	n/a
16	FOXA1	chr4:119991533-119991852	T-47D	breast:	n/a	chr4:119991817-119991829
17	FOXA1	chr4:119991380-119991850	HepG2	liver:	n/a	chr4:119991817-119991829
18	REST	chr4:119991485-119991874	MCF-7	breast:	n/a	chr4:119991783-119991803 chr4:119991783-119991803
19	STAT3	chr4:119991653-119991781	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr4:119991502-119991869	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr4:119991651-119991851	MCF10A-Er-Src	breast:	n/a	n/a
22	FOXA1	chr4:119991500-119991792	T-47D	breast:	n/a	n/a
23	CEBPB	chr4:119991445-119991817	MCF-7	breast:	n/a	chr4:119991609-119991620

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119988837..119992890-chr4:120132998..120134761,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249356	TF binding region
ENSG00000145390	Chromatin interaction
ENSG00000178636	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10002998	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs10021107	0.85[CEU][hapmap]
rs1047894	0.84[CEU][hapmap]
rs1058449	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17050108	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17050116	0.84[CEU][hapmap]
rs17330453	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28493971	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28495816	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28560056	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609814	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28698789	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28744401	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756153	0.84[CEU][hapmap]
rs62326862	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62328680	1.00[ASN][1000 genomes]
rs62328681	1.00[ASN][1000 genomes]
rs62328710	1.00[ASN][1000 genomes]
rs62328715	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62328716	1.00[ASN][1000 genomes]
rs62328720	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9998313	0.84[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119967400-119994000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:119975800-119994000	Weak transcription	Right Ventricle	heart
3	chr4:119975800-120003000	Weak transcription	Left Ventricle	heart
4	chr4:119979200-119996400	Weak transcription	Aorta	Aorta
5	chr4:119980600-119994000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:119988800-119992200	Enhancers	HepG2	liver
7	chr4:119988800-119992600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:119989200-119992600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:119989400-119992400	Enhancers	HMEC	breast
10	chr4:119989600-119992800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:119989800-119991800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:119990000-119992800	Enhancers	NHEK	skin
13	chr4:119990200-119992200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:119990400-119994200	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:119990800-119991800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr4:119991400-119991800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:119991600-119991800	Enhancers	Rectal Mucosa Donor 31	rectum

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