Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:87799265..87800918-chr4:87810195..87812041,2	K562	blood:
2	chr4:87514088..87517377-chr4:87799089..87802650,3	MCF-7	breast:
3	chr4:87799011..87801836-chr4:87812116..87814217,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10011798	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10015121	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10015477	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10021020	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10021790	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10034336	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1010902	0.91[ASN][1000 genomes]
rs1010903	0.91[ASN][1000 genomes]
rs11097123	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11097124	0.81[ASN][1000 genomes]
rs13115795	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13120981	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13137483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012132	0.92[ASN][1000 genomes]
rs1985944	0.91[ASN][1000 genomes]
rs2121871	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28446826	0.93[ASN][1000 genomes]
rs28641910	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28650493	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35428486	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs55698195	0.93[ASN][1000 genomes]
rs56201068	0.96[ASN][1000 genomes]
rs6823051	0.98[ASN][1000 genomes]
rs6846822	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs72667703	0.91[ASN][1000 genomes]
rs72667705	0.90[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	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87798800-87801200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:87799600-87800000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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