Variant report

Variant	rs7779747
Chromosome Location	chr7:50491358-50491359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50484194..50487347-chr7:50489470..50493667,5	K562	blood:
2	chr7:50484672..50487398-chr7:50490393..50493667,4	K562	blood:
3	chr7:50489145..50491557-chr7:50503922..50506424,2	MCF-7	breast:
4	chr7:50490774..50493016-chr7:50493621..50495493,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11575564	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1470746	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17133828	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133842	0.81[GIH][hapmap]
rs17553002	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17553022	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17634434	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17634488	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5014165	0.84[ASN][1000 genomes]
rs56819103	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57145809	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57345445	0.84[EUR][1000 genomes]
rs58298367	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58744984	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59913779	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60056150	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61731356	0.84[EUR][1000 genomes]
rs72645704	0.89[EUR][1000 genomes]
rs72645705	0.89[EUR][1000 genomes]
rs72645706	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72645707	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72645709	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779917	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7792486	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS 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	nsv515738	chr7:50476109-50494207	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7779747	ZNFN1A1	cis	multi-tissue	Pritchard
rs7779747	IKZF1	cis	Lymphoblastoid	GTEx
rs7779747	IKZF1	cis	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50486200-50513200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:50486400-50491600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:50486600-50495000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:50486800-50491400	Weak transcription	Fetal Thymus	thymus
5	chr7:50491000-50491800	Enhancers	HepG2	liver

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