Variant report

Variant	rs6470311
Chromosome Location	chr8:125898906-125898907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125896919..125899304-chr8:125915805..125917782,2	MCF-7	breast:
2	chr8:125893804..125895346-chr8:125896613..125898917,2	MCF-7	breast:
3	chr8:125868459..125870710-chr8:125897640..125900383,2	MCF-7	breast:
4	chr8:125825941..125830302-chr8:125896612..125901724,6	K562	blood:

Variant related genes	Relation type
ENSG00000255080	Chromatin interaction
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10109611	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12549398	1.00[EUR][1000 genomes]
rs12549495	1.00[EUR][1000 genomes]
rs12680676	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13282814	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28416206	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28513518	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28806495	1.00[EUR][1000 genomes]
rs4870930	0.87[MEX][hapmap]
rs4871557	0.87[MEX][hapmap]
rs4871559	0.94[MEX][hapmap]
rs4871566	0.88[JPT][hapmap];0.81[MEX][hapmap]
rs57912119	1.00[EUR][1000 genomes]
rs59059860	1.00[EUR][1000 genomes]
rs59234651	1.00[EUR][1000 genomes]
rs6470293	0.81[MEX][hapmap]
rs6470298	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6470300	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6470302	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6470303	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6470305	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6470306	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6470307	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6470308	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6470310	0.88[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs6470312	0.88[AFR][1000 genomes]
rs6470317	0.94[MEX][hapmap];0.86[MKK][hapmap]
rs67108254	1.00[EUR][1000 genomes]
rs67153029	0.90[EUR][1000 genomes]
rs67698519	1.00[EUR][1000 genomes]
rs6989386	1.00[EUR][1000 genomes]
rs7011950	0.88[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs7017632	1.00[EUR][1000 genomes]
rs72718716	1.00[EUR][1000 genomes]
rs72718730	1.00[EUR][1000 genomes]
rs7387254	0.94[ASW][hapmap];0.88[JPT][hapmap];0.80[LWK][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs7387480	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7387482	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7388465	0.85[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes]
rs7461227	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7461393	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7462143	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7462178	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7463173	1.00[EUR][1000 genomes]
rs7463222	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7464577	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7464782	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7465413	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7819873	0.88[JPT][hapmap];0.82[YRI][hapmap]
rs7820706	0.88[JPT][hapmap]
rs7827416	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7833872	0.81[MEX][hapmap]
rs9694845	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9694858	0.84[ASN][1000 genomes]
rs9987227	0.87[MEX][hapmap]

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	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

No data

Chromatin state (count:3 , 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	chr8:125894200-125900200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:125898000-125900600	Weak transcription	Fetal Heart	heart

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