Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56460906..56463443-chr12:56465823..56468206,2	K562	blood:
2	chr12:56467571..56470016-chr12:56470633..56472674,2	K562	blood:

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

rs_ID	r²[population]
rs10876864	0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap]
rs10876870	0.89[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[ASN][1000 genomes]
rs11171739	0.89[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1131017	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs1701704	0.94[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs1873914	0.84[CHB][hapmap]
rs2271194	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2292239	0.81[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2456973	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs2640562	0.91[ASN][1000 genomes]
rs3741499	0.89[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4759229	0.89[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs705696	0.88[ASN][1000 genomes]
rs705699	0.84[CHB][hapmap]
rs705704	0.94[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs7297175	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7305461	0.81[JPT][hapmap]
rs772921	0.94[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs773108	0.84[CHB][hapmap]
rs773109	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs773114	0.84[CHB][hapmap]
rs7971751	0.89[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[ASN][1000 genomes]
rs877636	0.89[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.88[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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers 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	284 gene(s)	inside rSNPs	diseases
2	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs7312770	LOC644934	trans	multi-tissue	Pritchard
rs7312770	SUOX	cis	parietal	SCAN
rs7312770	LOC441502	trans	multi-tissue	Pritchard
rs7312770	LOC644166///LOC644191///LOC728937///RPS26	Cis_1M	lymphoblastoid	RTeQTL
rs7312770	KRT80	cis	parietal	SCAN
rs7312770	CCDC4	trans	multi-tissue	Pritchard
rs7312770	HOXC8	cis	cerebellum	SCAN
rs7312770	MADCAM1	trans	multi-tissue	Pritchard
rs7312770	RPS26P10	trans	multi-tissue	Pritchard
rs7312770	LOC441377	trans	multi-tissue	Pritchard
rs7312770	SUOX	cis	Artery Tibial	GTEx
rs7312770	DNAJC14	cis	parietal	SCAN
rs7312770	INHBC	cis	cerebellum	SCAN
rs7312770	DEFB124	trans	lymphoblastoid	RTeQTL
rs7312770	MAGEC1	trans	multi-tissue	Pritchard
rs7312770	SUOX	cis	Whole Blood	GTEx
rs7312770	SUOX	cis	Thyroid	GTEx
rs7312770	SUOX	cis	multi-tissue	Pritchard
rs7312770	ERBB3	cis	parietal	SCAN
rs7312770	FLJ20280	trans	multi-tissue	Pritchard
rs7312770	RPS26	cis	multi-tissue	Pritchard
rs7312770	RPS26	cis	lymphoblastoid	seeQTL
rs7312770	KRT8	cis	parietal	SCAN
rs7312770	SUOX	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56437000-56472800	Weak transcription	Right Atrium	heart
2	chr12:56454400-56467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:56466200-56472400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:56466400-56471800	Weak transcription	Hela-S3	cervix
5	chr12:56466400-56472600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:56466600-56472600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:56466600-56472800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:56467000-56468000	Weak transcription	HepG2	liver

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