Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120409746..120412128-chr8:120412438..120415019,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10505358	0.90[ASN][1000 genomes]
rs1461692	0.87[ASN][1000 genomes]
rs16892552	0.88[ASN][1000 genomes]
rs16892553	0.90[ASN][1000 genomes]
rs16892556	0.90[ASN][1000 genomes]
rs2071519	0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs58210708	0.85[ASN][1000 genomes]
rs72684262	1.00[EUR][1000 genomes]
rs72684264	1.00[EUR][1000 genomes]
rs72684269	1.00[EUR][1000 genomes]
rs72684273	1.00[EUR][1000 genomes]
rs72684274	1.00[EUR][1000 genomes]
rs72684284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72684294	1.00[ASN][1000 genomes]
rs72684295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72684301	0.90[ASN][1000 genomes]
rs72686303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72686314	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1026655	chr8:120282929-120522329	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2100836	WWC3	trans	lymphoblastoid	RTeQTL
rs2100836	TRAP1	trans	lymphoblastoid	RTeQTL
rs2100836	POP1	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120408600-120415000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:120411800-120413200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:120412200-120412800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:120412400-120413200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:120412400-120414200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:120412600-120412800	ZNF genes & repeats	Aorta	Aorta

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