Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17705084..17707821-chr11:17711837..17714694,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10832833	1.00[ASN][1000 genomes]
rs12420653	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934767	1.00[JPT][hapmap]
rs17779771	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249104	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs2336844	1.00[ASN][1000 genomes]
rs2734554	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs34780394	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34854265	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858497	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858500	1.00[CEU][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858509	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858510	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3928367	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4044329	1.00[JPT][hapmap]
rs4379820	1.00[ASN][1000 genomes]
rs4567433	1.00[ASN][1000 genomes]
rs4756911	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757566	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61880606	1.00[ASN][1000 genomes]

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	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1044126	chr11:17557715-17730646	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv540953	chr11:17557715-17730646	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6486387	DBX1	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17704000-17711600	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr11:17704200-17711600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr11:17705600-17707600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:17705600-17709400	Enhancers	HSMM	muscle
5	chr11:17705800-17707600	Weak transcription	HSMMtube	muscle
6	chr11:17706000-17708800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:17706200-17707600	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr11:17706400-17707400	Weak transcription	Psoas Muscle	Psoas
9	chr11:17706600-17708200	Enhancers	Fetal Muscle Trunk	muscle

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