Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95809644..95812311-chr8:95818366..95820931,2	K562	blood:
2	chr8:95809601..95812028-chr8:95833895..95836777,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164941	Chromatin interaction

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

rs_ID	r²[population]
rs10100724	0.90[ASN][1000 genomes]
rs10100860	0.90[ASN][1000 genomes]
rs11785908	0.90[ASN][1000 genomes]
rs11996148	0.90[ASN][1000 genomes]
rs12543525	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13249787	0.90[ASN][1000 genomes]
rs13271653	0.82[ASN][1000 genomes]
rs35769195	0.90[ASN][1000 genomes]
rs35937656	0.90[ASN][1000 genomes]
rs4236830	0.90[ASN][1000 genomes]
rs4268099	0.90[ASN][1000 genomes]
rs4332100	0.90[ASN][1000 genomes]
rs4377930	0.90[ASN][1000 genomes]
rs4398879	0.90[ASN][1000 genomes]
rs4448241	0.90[ASN][1000 genomes]
rs4478541	0.90[ASN][1000 genomes]
rs4545065	0.90[ASN][1000 genomes]
rs4548144	0.87[ASN][1000 genomes]
rs4548145	0.90[ASN][1000 genomes]
rs4735323	0.90[ASN][1000 genomes]
rs4735325	0.90[ASN][1000 genomes]
rs6415569	0.93[ASN][1000 genomes]
rs6415570	0.93[ASN][1000 genomes]
rs6471488	0.90[ASN][1000 genomes]
rs6471489	0.90[ASN][1000 genomes]
rs6471490	0.90[ASN][1000 genomes]
rs6471491	0.90[ASN][1000 genomes]
rs6471493	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6471494	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6985400	0.90[ASN][1000 genomes]
rs6988572	0.90[ASN][1000 genomes]
rs6988791	0.82[ASN][1000 genomes]
rs6992217	0.90[ASN][1000 genomes]
rs6999453	0.90[ASN][1000 genomes]
rs7006999	0.90[ASN][1000 genomes]
rs7017149	0.90[ASN][1000 genomes]
rs7824040	0.97[ASN][1000 genomes]
rs7832492	0.90[ASN][1000 genomes]
rs7837111	0.87[ASN][1000 genomes]
rs7840272	0.90[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95786200-95811600	Weak transcription	Spleen	Spleen
2	chr8:95786200-95812800	Weak transcription	Gastric	stomach
3	chr8:95791400-95812400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:95792000-95811600	Weak transcription	Thymus	Thymus
5	chr8:95799200-95814400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:95799800-95811400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:95809600-95810800	Enhancers	Placenta	Placenta
8	chr8:95810000-95814000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:95810200-95811400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:95810200-95818800	Weak transcription	K562	blood
11	chr8:95810200-95819600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:95810600-95810800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:95810600-95810800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr8:95810600-95811000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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