Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21816268..21818392-chr7:21823306..21824872,2	MCF-7	breast:
2	chr7:21785213..21786764-chr7:21816105..21818005,2	K562	blood:

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

rs_ID	r²[population]
rs10241767	0.81[CEU][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs11761422	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs11763827	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs17145412	0.89[CHB][hapmap];0.97[CHD][hapmap];0.89[ASN][1000 genomes]
rs17145452	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs17357735	0.85[CEU][hapmap]
rs17358098	0.85[CEU][hapmap];0.81[GIH][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs1859102	0.81[CEU][hapmap];0.88[JPT][hapmap];0.85[MEX][hapmap]
rs2074328	0.84[CHB][hapmap];0.87[ASN][1000 genomes]
rs2074331	0.89[CHB][hapmap];0.89[ASN][1000 genomes]
rs2189020	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189021	0.82[CEU][hapmap];0.84[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs2214324	0.85[CEU][hapmap]
rs2269827	0.88[ASN][1000 genomes]
rs2286270	0.80[MEX][hapmap]
rs36121046	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141348	0.89[CHB][hapmap];0.91[CHD][hapmap];0.86[ASN][1000 genomes]
rs4722055	0.85[JPT][hapmap]
rs67825435	0.83[EUR][1000 genomes]
rs6965106	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs7793481	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv830922	chr7:21793386-21964675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11764949	TUBB6	trans	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21813200-21818600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:21816200-21824400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:21817400-21818400	Enhancers	Primary hematopoietic stem cells	blood

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