Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117898898..117901210-chr7:117904773..117907240,2	K562	blood:

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

rs_ID	r²[population]
rs10267938	0.83[EUR][1000 genomes]
rs12112697	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12667103	0.81[EUR][1000 genomes]
rs2041528	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28260	0.80[EUR][1000 genomes]
rs41900	0.83[EUR][1000 genomes]
rs41901	0.83[EUR][1000 genomes]
rs41902	0.83[EUR][1000 genomes]
rs41905	0.83[EUR][1000 genomes]
rs41906	0.83[EUR][1000 genomes]
rs41909	0.83[EUR][1000 genomes]
rs41910	0.81[EUR][1000 genomes]
rs41911	0.81[EUR][1000 genomes]
rs41915	0.80[EUR][1000 genomes]
rs41916	0.80[EUR][1000 genomes]
rs41925	0.80[EUR][1000 genomes]
rs41926	0.80[EUR][1000 genomes]
rs4535672	0.83[EUR][1000 genomes]
rs979652	0.84[CEU][hapmap]
rs9886333	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs992035	0.90[CHB][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv889088	chr7:117744660-117913648	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv889089	chr7:117865940-117921267	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv889090	chr7:117865940-118067460	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv889091	chr7:117899190-117963926	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs41908	ANKRD7	cis	cerebellum	SCAN
rs41908	NAA38	cis	lymphoblastoid	seeQTL
rs41908	ANKRD7	cis	parietal	SCAN
rs41908	LSM8	cis	multi-tissue	Pritchard
rs41908	NAA38	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117898800-117900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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