Variant report

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103681309..103683202-chr8:103817592..103821349,3	MCF-7	breast:
2	chr8:103680216..103682941-chr8:103741314..103743864,2	K562	blood:
3	chr8:103681131..103683313-chr8:103821848..103824380,2	MCF-7	breast:
4	chr8:103680920..103683026-chr8:103707719..103709439,2	MCF-7	breast:
5	chr8:103680225..103682930-chr8:103735683..103738300,2	MCF-7	breast:
6	chr8:103682306..103684189-chr8:103691260..103693656,2	MCF-7	breast:
7	chr8:103676174..103681192-chr8:103681793..103685346,6	K562	blood:
8	chr8:103680729..103682800-chr8:103703137..103705499,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12546601	0.96[CHB][hapmap];0.92[ASN][1000 genomes]
rs12547574	0.96[ASN][1000 genomes]
rs12548858	0.88[ASN][1000 genomes]
rs12549399	0.88[ASN][1000 genomes]
rs12674646	0.96[ASN][1000 genomes]
rs12675196	0.87[ASN][1000 genomes]
rs12675239	0.87[ASN][1000 genomes]
rs12680362	0.98[ASN][1000 genomes]
rs12680598	0.96[ASN][1000 genomes]
rs12680908	0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12682093	0.92[ASN][1000 genomes]
rs1317883	1.00[CEU][hapmap]
rs1318752	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs16869664	0.91[CHB][hapmap]
rs16869676	0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs16869724	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2053128	0.87[CHB][hapmap]
rs2436946	0.94[ASN][1000 genomes]
rs2471847	0.94[ASN][1000 genomes]
rs2511701	0.86[JPT][hapmap]
rs2511718	0.95[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs2511719	0.92[ASN][1000 genomes]
rs2511730	0.94[ASN][1000 genomes]
rs2734824	0.89[ASN][1000 genomes]
rs2916570	0.93[ASN][1000 genomes]
rs3018443	0.84[ASN][1000 genomes]
rs56929055	0.88[ASN][1000 genomes]
rs72685110	0.87[ASN][1000 genomes]
rs72685117	0.94[ASN][1000 genomes]
rs72685118	0.96[ASN][1000 genomes]
rs72685123	0.96[ASN][1000 genomes]
rs72685128	0.96[ASN][1000 genomes]
rs73276720	0.89[ASN][1000 genomes]
rs9642792	0.81[ASN][1000 genomes]
rs980112	0.96[ASN][1000 genomes]

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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1026755	chr8:103676970-103728556	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018625	chr8:103676970-103729197	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103675400-103698200	Weak transcription	Osteobl	bone
2	chr8:103675600-103692800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:103675800-103688200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:103679400-103689400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:103679800-103706400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:103682600-103683000	Enhancers	Right Ventricle	heart
7	chr8:103682600-103683600	Enhancers	Fetal Muscle Trunk	muscle
8	chr8:103682600-103684000	Enhancers	Fetal Muscle Leg	muscle

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