Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:48306919..48308985-chr4:48310815..48312658,2	MCF-7	breast:
2	chr4:48307128..48308921-chr4:48310432..48312338,2	K562	blood:
3	chr4:48306231..48309120-chr4:48316707..48318275,2	K562	blood:

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

rs_ID	r²[population]
rs10008882	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10011558	0.81[AFR][1000 genomes]
rs10014431	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10033395	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10049672	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10049857	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1472968	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1472969	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17609346	0.81[ASN][1000 genomes]
rs1806833	0.83[ASN][1000 genomes]
rs2036770	0.83[ASN][1000 genomes]
rs28677107	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs309897	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4695372	0.85[ASN][1000 genomes]
rs55990756	0.82[AFR][1000 genomes]
rs58961640	0.83[ASN][1000 genomes]
rs67977239	0.83[ASN][1000 genomes]
rs6830515	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6830856	0.83[ASN][1000 genomes]
rs729740	0.83[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	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr4:48300400-48309800	Weak transcription	Fetal Brain Male	brain
2	chr4:48308200-48309000	Enhancers	K562	blood
3	chr4:48308200-48309800	Weak transcription	Fetal Brain Female	brain

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