Variant report

Variant	rs7005389
Chromosome Location	chr8:10701114-10701115
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	CEBPB	chr8:10700841-10701144	A549	lung:	n/a	chr8:10700989-10701000
2	CEBPB	chr8:10700845-10701141	K562	blood:	n/a	chr8:10700989-10701000
3	CEBPB	chr8:10700842-10701340	HepG2	liver:	n/a	chr8:10700989-10701000
4	CEBPB	chr8:10700867-10701158	IMR90	lung:	n/a	chr8:10700989-10701000

No.	Distal block	Cell Line	Cell type
1	chr8:10700359..10702352-chr8:10709225..10710771,2	K562	blood:
2	chr8:10695083..10698096-chr8:10698399..10704123,5	MCF-7	breast:
3	chr8:10696613..10699167-chr8:10699499..10701389,2	MCF-7	breast:
4	chr8:10698588..10701340-chr8:10707877..10710220,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258724	TF binding region
SOX7	TF binding region
PINX1	TF binding region
ENSG00000258724	Chromatin interaction
ENSG00000253695	Chromatin interaction
ENSG00000254093	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10102073	1.00[CHB][hapmap]
rs1052523	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11786713	1.00[CHB][hapmap]
rs11997941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13256603	0.81[EUR][1000 genomes]
rs13256636	0.81[EUR][1000 genomes]
rs13259547	1.00[CHB][hapmap]
rs13261103	1.00[CHB][hapmap]
rs13275368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13277664	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13280573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs17152329	1.00[CHB][hapmap]
rs17152399	1.00[CHB][hapmap]
rs17152442	1.00[CEU][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs17152492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs17721019	0.92[EUR][1000 genomes]
rs2409653	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2409654	1.00[CHB][hapmap]
rs2409655	1.00[CHB][hapmap]
rs2409656	1.00[CHB][hapmap]
rs2898244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2898246	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs34349857	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34535545	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35039898	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35660623	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35873156	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4129653	1.00[CHB][hapmap]
rs4310166	1.00[CHB][hapmap]
rs61064518	0.92[EUR][1000 genomes]
rs6601531	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6601532	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6601537	1.00[CHB][hapmap]
rs6601538	1.00[CHB][hapmap]
rs6982062	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6983180	1.00[CEU][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs6987083	1.00[CHB][hapmap]
rs6989930	1.00[CEU][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs6990041	1.00[CEU][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6992312	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6993463	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs6993632	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs6993753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7006707	1.00[CEU][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs7009841	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7010246	1.00[CHB][hapmap]
rs7015820	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73529608	0.88[EUR][1000 genomes]
rs73531562	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7463228	1.00[CHB][hapmap]
rs7813417	1.00[CHB][hapmap]
rs7814489	0.82[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7822821	1.00[CHB][hapmap]
rs7824878	1.00[CHB][hapmap]
rs7838734	1.00[CHB][hapmap]
rs7840610	1.00[CHB][hapmap]
rs7840769	1.00[CHB][hapmap]
rs891557	1.00[CHB][hapmap]
rs934325	1.00[CHB][hapmap]
rs9969476	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS 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 miRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10698000-10702400	Weak transcription	Liver	Liver
2	chr8:10698000-10707800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:10700600-10701400	Enhancers	GM12878-XiMat	blood

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