Variant report

Variant	rs6583421
Chromosome Location	chr7:50096263-50096264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr7:50096227-50096428	K562	blood:	n/a	n/a

Variant related genes	Relation type
ZPBP	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11971651	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs13229373	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs13239786	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs13247946	0.91[CEU][hapmap]
rs1384634	0.93[ASW][hapmap];0.88[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap]
rs1396280	0.89[CEU][hapmap]
rs1580400	0.81[EUR][1000 genomes]
rs1601033	0.87[ASW][hapmap];0.89[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap]
rs2220065	0.87[ASW][hapmap];0.89[CEU][hapmap];0.89[TSI][hapmap]
rs3778764	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs3807317	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4092362	0.81[CHB][hapmap]
rs57738412	0.81[EUR][1000 genomes]
rs6583408	0.87[ASW][hapmap];0.89[CEU][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs6583409	0.87[ASW][hapmap];0.89[CEU][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs6944097	0.92[CEU][hapmap]
rs6968612	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7797137	0.89[CEU][hapmap]
rs7798067	0.89[CEU][hapmap]
rs7805001	0.81[EUR][1000 genomes]
rs7806598	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][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	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv830997	chr7:49970866-50136498	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6583421	C7orf72	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50096000-50096400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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