Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:40430719..40434773-chr13:40442219..40445584,3	K562	blood:

Variant related genes	Relation type
ENSG00000270444	Chromatin interaction
ENSG00000212553	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12862721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1555629	0.88[ASN][1000 genomes]
rs2209234	0.87[ASN][1000 genomes]
rs2324458	0.92[ASN][1000 genomes]
rs2875347	0.91[ASN][1000 genomes]
rs2985248	0.91[ASN][1000 genomes]
rs3012139	0.86[ASN][1000 genomes]
rs35023159	0.84[EUR][1000 genomes]
rs35781607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941945	0.92[ASN][1000 genomes]
rs61955567	0.84[EUR][1000 genomes]
rs6563756	0.82[CHD][hapmap]
rs6563765	0.84[EUR][1000 genomes]
rs7139604	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7327167	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs912418	0.91[ASN][1000 genomes]
rs912421	0.92[ASN][1000 genomes]
rs9566480	0.93[ASN][1000 genomes]
rs9576907	0.87[ASN][1000 genomes]
rs9603632	0.86[ASN][1000 genomes]
rs9603634	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs968130	0.93[ASN][1000 genomes]
rs9788306	0.83[EUR][1000 genomes]
rs996546	0.92[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	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1054797	chr13:40198744-40618428	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv541755	chr13:40198744-40618428	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1040458	chr13:40249387-40638129	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40442400-40450800	Weak transcription	Fetal Heart	heart
2	chr13:40442800-40448200	Weak transcription	HUVEC	blood vessel
3	chr13:40444000-40445200	Enhancers	NHDF-Ad	bronchial
4	chr13:40444400-40444800	Enhancers	Fetal Brain Male	brain
5	chr13:40444400-40445000	Enhancers	Osteobl	bone

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