Variant report

Variant	rs457377
Chromosome Location	chr5:14655549-14655550
allele	G/T
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	EP300	chr5:14655530-14655647	K562	blood:	n/a	n/a
2	CEBPB	chr5:14655516-14655692	H1-hESC	embryonic stem cell:	n/a	chr5:14655641-14655652
3	JUND	chr5:14655538-14655653	K562	blood:	n/a	n/a
4	FOXA1	chr5:14655360-14655591	T-47D	breast:	n/a	n/a
5	CEBPB	chr5:14655465-14655810	HepG2	liver:	n/a	chr5:14655641-14655652
6	CEBPB	chr5:14655458-14655793	A549	lung:	n/a	chr5:14655641-14655652
7	CEBPB	chr5:14655480-14655793	K562	blood:	n/a	chr5:14655641-14655652
8	JUND	chr5:14655515-14655686	HepG2	liver:	n/a	n/a
9	RUNX3	chr5:14655261-14655590	GM12878	blood:	n/a	n/a
10	CEBPB	chr5:14655478-14655804	Hela-S3	cervix:	n/a	chr5:14655641-14655652
11	CEBPB	chr5:14655475-14655802	IMR90	lung:	n/a	chr5:14655641-14655652

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14654188..14656036-chr5:14656686..14658192,2	MCF-7	breast:
2	chr5:14654818..14657661-chr5:14662686..14665477,2	MCF-7	breast:

Variant related genes	Relation type
EEF1A1P13	TF binding region
ENSG00000261360	Chromatin interaction
ENSG00000154124	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13159680	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149125	0.84[ASN][1000 genomes]
rs149389	1.00[CEU][hapmap]
rs149497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152719	1.00[ASN][1000 genomes]
rs152970	1.00[ASN][1000 genomes]
rs152971	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152973	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153827	1.00[CEU][hapmap]
rs153828	1.00[CEU][hapmap]
rs153831	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153832	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153833	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153835	1.00[ASN][1000 genomes]
rs153836	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs153837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153934	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs154667	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17249895	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2455240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs25942	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs25943	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31993	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs31994	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs31995	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34087737	0.88[ASN][1000 genomes]
rs34617159	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs430035	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs455943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs456977	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs458863	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs461015	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs461056	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs461154	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs620434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14655000-14655600	Enhancers	Fetal Thymus	thymus
2	chr5:14655200-14655600	Enhancers	Primary T cells from cord blood	blood
3	chr5:14655200-14655600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:14655200-14655600	Enhancers	GM12878-XiMat	blood
5	chr5:14655200-14655600	Enhancers	NHEK	skin
6	chr5:14655200-14657000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:14655200-14663800	Weak transcription	Pancreas	Pancrea
8	chr5:14655400-14655600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr5:14655400-14655600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:14655400-14655800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:14655400-14655800	Enhancers	Dnd41	blood
12	chr5:14655400-14656000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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