Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:139817301..139819044-chr6:139820730..139822475,2	K562	blood:
2	chr6:139692857..139697626-chr6:139818827..139822666,6	K562	blood:
3	chr6:139692857..139697626-chr6:139818294..139823547,7	K562	blood:
4	chr6:139820561..139822171-chr6:139823750..139825747,3	K562	blood:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

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

rs_ID	r²[population]
rs10872516	0.92[ASN][1000 genomes]
rs1468708	0.84[JPT][hapmap]
rs1468709	0.84[JPT][hapmap];0.81[YRI][hapmap]
rs2908512	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2908517	0.94[ASN][1000 genomes]
rs2908521	0.84[ASN][1000 genomes]
rs3010282	0.84[ASN][1000 genomes]
rs3010285	0.91[ASN][1000 genomes]
rs3010286	0.84[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4896463	0.84[JPT][hapmap]
rs4896464	0.93[ASN][1000 genomes]
rs6923416	0.84[JPT][hapmap]
rs7770257	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9376420	0.84[JPT][hapmap]
rs9376421	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9376422	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9376423	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9389689	0.93[ASN][1000 genomes]
rs9399282	0.84[JPT][hapmap];0.81[YRI][hapmap]
rs9403080	0.84[JPT][hapmap];0.81[YRI][hapmap]
rs9403082	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9403083	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9403084	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9495502	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1026819	chr6:139813809-139834012	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2908513	CACNA1G	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139815800-139822800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:139821000-139822600	Enhancers	K562	blood
3	chr6:139821600-139821800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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