Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172362522..172365533-chr2:172367182..172371221,4	K562	blood:
2	chr2:172357628..172360475-chr2:172360597..172364119,3	K562	blood:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10172434	0.98[EUR][1000 genomes]
rs12617802	0.84[CEU][hapmap]
rs12621138	0.80[CEU][hapmap]
rs16859371	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16859373	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16859380	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16859386	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16859390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16859404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16859405	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16859410	0.91[ASN][1000 genomes]
rs17287442	0.87[CEU][hapmap];0.83[GIH][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs17287497	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1882378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3795996	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3806562	0.80[CEU][hapmap]
rs3806563	0.80[CEU][hapmap]
rs56239048	0.81[ASN][1000 genomes]
rs56273218	0.81[ASN][1000 genomes]
rs61021737	0.81[ASN][1000 genomes]
rs61502503	0.81[ASN][1000 genomes]
rs6759487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs728651	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72882347	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72882358	0.93[EUR][1000 genomes]
rs72882363	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73021048	0.81[ASN][1000 genomes]
rs884409	0.87[CEU][hapmap]
rs9646734	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17287624	GAD1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172340000-172368400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:172360600-172365600	Weak transcription	Small Intestine	intestine
3	chr2:172362800-172365600	Weak transcription	K562	blood
4	chr2:172364000-172367000	Enhancers	Duodenum Mucosa	Duodenum

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