Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:111975573..111978614-chr7:111997499..112000995,3	K562	blood:
2	chr7:111990563..111992725-chr7:111998722..112000873,2	MCF-7	breast:
3	chr7:111995574..111997351-chr7:111999443..112001258,2	K562	blood:
4	chr7:111996890..111999706-chr7:112089816..112092344,3	K562	blood:

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

rs_ID	r²[population]
rs10233673	0.80[JPT][hapmap]
rs10266365	0.82[JPT][hapmap]
rs10435366	0.95[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs11773464	0.94[JPT][hapmap]
rs12113634	0.88[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs12154685	0.87[JPT][hapmap]
rs12537746	0.94[JPT][hapmap]
rs12705817	0.94[JPT][hapmap]
rs13236012	0.93[JPT][hapmap]
rs1557698	0.80[MEX][hapmap]
rs2040728	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2523032	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2523042	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2708600	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2708601	1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4464880	0.82[JPT][hapmap]
rs4727766	0.82[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs4730524	0.86[JPT][hapmap]
rs4730533	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6949809	0.82[JPT][hapmap]
rs6966390	0.82[JPT][hapmap]
rs6974364	0.81[JPT][hapmap]
rs6976889	0.85[JPT][hapmap]
rs6978767	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs727807	0.83[JPT][hapmap]
rs736771	0.94[JPT][hapmap]
rs757195	0.80[JPT][hapmap]
rs757196	0.82[JPT][hapmap]
rs960348	0.94[JPT][hapmap]

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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7789649	C7orf53	cis	cerebellum	SCAN
rs7789649	TFEC	cis	parietal	SCAN
rs7789649	CCDC21	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111966600-112000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:111983800-112004600	Weak transcription	Pancreas	Pancrea
3	chr7:111987800-112000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:111995800-112000800	Weak transcription	Aorta	Aorta
5	chr7:111998600-112006600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:111999000-112000600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:111999000-112000600	Weak transcription	HepG2	liver
8	chr7:111999400-111999600	ZNF genes & repeats	Right Atrium	heart

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