Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93518072..93519593-chr1:93543100..93545883,2	K562	blood:
2	chr1:93516477..93519592-chr1:93550501..93553219,3	K562	blood:

Variant related genes	Relation type
ENSG00000143033	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12022729	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs12023767	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs12027025	0.82[ASN][1000 genomes]
rs12039256	0.82[ASN][1000 genomes]
rs12043577	0.81[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs12119421	0.83[ASN][1000 genomes]
rs12134501	0.82[ASN][1000 genomes]
rs12141895	0.82[ASN][1000 genomes]
rs2492898	0.81[ASN][1000 genomes]
rs2815417	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4626900	0.80[ASN][1000 genomes]
rs485336	0.82[ASN][1000 genomes]
rs517856	0.82[ASN][1000 genomes]
rs521527	0.84[JPT][hapmap]
rs524045	0.81[ASN][1000 genomes]
rs536837	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs544051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57478994	0.81[ASN][1000 genomes]
rs638462	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs638958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680285	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs808833	0.82[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs9787147	0.89[JPT][hapmap];0.81[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870775	chr1:93481640-93543119	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv946092	chr1:93511551-93522478	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs544285	BCAR3	cis	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93517400-93518600	Enhancers	K562	blood
2	chr1:93517400-93519000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:93517600-93518800	Enhancers	Dnd41	blood

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