Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110457347..110460369-chr13:110462988..110465176,3	K562	blood:
2	chr13:110456902..110459964-chr13:110462988..110465926,5	K562	blood:

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

rs_ID	r²[population]
rs11069805	1.00[ASN][1000 genomes]
rs11069806	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11618950	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12427994	1.00[ASN][1000 genomes]
rs12429603	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57988999	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58117173	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59041354	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492227	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7333550	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123779	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123780	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123783	0.86[EUR][1000 genomes]
rs74123785	0.86[EUR][1000 genomes]
rs745324	0.86[AFR][1000 genomes]
rs7981170	1.00[CHD][hapmap]
rs7981705	1.00[CHD][hapmap]
rs7987339	1.00[ASN][1000 genomes]
rs7987651	1.00[ASN][1000 genomes]
rs7996932	1.00[ASN][1000 genomes]
rs9301412	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521516	1.00[ASN][1000 genomes]
rs9583427	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9521522	GFRA3	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110455800-110469200	Weak transcription	Pancreas	Pancrea
2	chr13:110463400-110468800	Weak transcription	NH-A	brain
3	chr13:110463600-110468600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr13:110463600-110468800	Weak transcription	HSMMtube	muscle
5	chr13:110463800-110464800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:110463800-110469200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:110464200-110468400	Weak transcription	HSMM	muscle
8	chr13:110464400-110468200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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