Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73317701..73319814-chr6:73321410..73323642,2	K562	blood:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10447318	1.00[CHB][hapmap]
rs10447319	1.00[CHB][hapmap]
rs10455265	1.00[ASN][1000 genomes]
rs10805962	1.00[ASN][1000 genomes]
rs10805963	1.00[ASN][1000 genomes]
rs10943028	1.00[ASN][1000 genomes]
rs10943029	1.00[ASN][1000 genomes]
rs10943030	1.00[ASN][1000 genomes]
rs11754088	1.00[ASN][1000 genomes]
rs11756583	1.00[ASN][1000 genomes]
rs12154175	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190317	1.00[ASN][1000 genomes]
rs12194365	1.00[ASN][1000 genomes]
rs12194589	1.00[ASN][1000 genomes]
rs12194594	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207905	1.00[ASN][1000 genomes]
rs12207993	1.00[ASN][1000 genomes]
rs12209479	1.00[ASN][1000 genomes]
rs12210205	1.00[ASN][1000 genomes]
rs12215286	1.00[ASN][1000 genomes]
rs12216052	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216223	1.00[ASN][1000 genomes]
rs13195485	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1334343	1.00[ASN][1000 genomes]
rs17691724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28652881	1.00[ASN][1000 genomes]
rs35490354	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912302	1.00[ASN][1000 genomes]
rs6922202	1.00[ASN][1000 genomes]
rs72946202	1.00[ASN][1000 genomes]
rs7764686	1.00[ASN][1000 genomes]
rs9293887	1.00[ASN][1000 genomes]
rs9446692	1.00[CHB][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7776072	COL12A1	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73323000-73324000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr6:73323400-73323600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:73323400-73323800	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr6:73323400-73323800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:73323400-73323800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr6:73323400-73323800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr6:73323400-73323800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr6:73323400-73324000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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