Variant report

Variant	rs6989386
Chromosome Location	chr8:125894089-125894090
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125890513..125892129-chr8:125892200..125894827,2	MCF-7	breast:
2	chr8:125893623..125896589-chr8:125899803..125902568,2	MCF-7	breast:
3	chr8:125893804..125895346-chr8:125896613..125898917,2	MCF-7	breast:
4	chr8:125891889..125894813-chr8:125896183..125898744,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10109611	1.00[EUR][1000 genomes]
rs12549398	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549495	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13282814	1.00[EUR][1000 genomes]
rs28416206	1.00[EUR][1000 genomes]
rs28513518	1.00[EUR][1000 genomes]
rs28806495	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57912119	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59059860	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59234651	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470298	1.00[EUR][1000 genomes]
rs6470300	1.00[EUR][1000 genomes]
rs6470302	0.90[EUR][1000 genomes]
rs6470303	1.00[EUR][1000 genomes]
rs6470305	1.00[EUR][1000 genomes]
rs6470306	0.85[EUR][1000 genomes]
rs6470307	1.00[EUR][1000 genomes]
rs6470308	1.00[EUR][1000 genomes]
rs6470311	1.00[EUR][1000 genomes]
rs67108254	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67153029	0.90[EUR][1000 genomes]
rs67698519	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996164	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7017632	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718716	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718730	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7387480	1.00[EUR][1000 genomes]
rs7387482	1.00[EUR][1000 genomes]
rs7461227	1.00[EUR][1000 genomes]
rs7461393	1.00[EUR][1000 genomes]
rs7462143	1.00[EUR][1000 genomes]
rs7462178	1.00[EUR][1000 genomes]
rs7463173	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7463222	1.00[EUR][1000 genomes]
rs7464577	1.00[EUR][1000 genomes]
rs7464782	1.00[EUR][1000 genomes]
rs7465413	1.00[EUR][1000 genomes]
rs7827416	0.90[EUR][1000 genomes]
rs9694845	1.00[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv3404810	chr8:125889954-125895701	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125887200-125900200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125892800-125894200	Enhancers	Fetal Muscle Trunk	muscle
3	chr8:125893400-125894200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:125893400-125894200	Enhancers	HSMM	muscle
5	chr8:125894000-125895200	Weak transcription	HSMMtube	muscle

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