Variant report

No.	Distal block	Cell Line	Cell type
1	chr11:17701946..17705746-chr11:17707792..17711044,3	K562	blood:
2	chr11:17710093..17712652-chr11:17715299..17717332,2	K562	blood:
3	chr11:17710440..17715421-chr11:17715832..17719362,5	K562	blood:

Variant related genes	Relation type
ENSG00000255335	Chromatin interaction
ENSG00000254586	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10832833	1.00[ASN][1000 genomes]
rs16934767	1.00[JPT][hapmap]
rs17779771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249104	1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs2336844	1.00[ASN][1000 genomes]
rs2734554	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs34780394	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34854265	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858497	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858500	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858504	0.81[EUR][1000 genomes]
rs3858509	0.92[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];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3928367	0.88[AMR][1000 genomes];0.97[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];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61880606	1.00[ASN][1000 genomes]
rs6486387	0.96[EUR][1000 genomes];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
rs12420653	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	chr11:17707600-17712200	Enhancers	Fetal Muscle Leg	muscle
4	chr11:17708000-17711400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:17709200-17711200	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:17710200-17713200	Weak transcription	Psoas Muscle	Psoas
7	chr11:17710800-17711200	Weak transcription	HSMM	muscle
8	chr11:17710800-17713200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:17710800-17713400	Weak transcription	HSMMtube	muscle

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