Variant report

Variant	rs2722702
Chromosome Location	chr19:44955578-44955579
allele	G/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	MAFF	chr19:44955471-44955609	HepG2	liver:	n/a	n/a
2	MAFK	chr19:44955408-44955695	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44951129..44953008-chr19:44953398..44957398,3	K562	blood:

Variant related genes	Relation type
ZNF229	TF binding region
ENSG00000267188	TF binding region
ENSG00000267188	Chromatin interaction
ENSG00000167383	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1434577	1.00[ASW][hapmap]
rs1727731	1.00[ASW][hapmap]
rs17354917	1.00[YRI][hapmap]
rs2020083	1.00[ASW][hapmap]
rs2293164	1.00[ASW][hapmap];0.80[CEU][hapmap];0.90[TSI][hapmap]
rs2466416	0.86[ASN][1000 genomes]
rs2571157	0.81[ASN][1000 genomes]
rs2571158	0.90[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2571159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571160	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs2571161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571162	0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2571163	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2571164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571165	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs2571166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2571169	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2571170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571174	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2686779	0.84[CHD][hapmap]
rs2722693	0.95[ASN][1000 genomes]
rs2722697	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2722698	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs2722699	1.00[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2722700	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2722701	0.91[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2734453	1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs2734457	0.95[ASN][1000 genomes]
rs4141695	0.80[CEU][hapmap]
rs4802224	0.98[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	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44948200-44959800	ZNF genes & repeats	Liver	Liver
2	chr19:44953000-44955600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:44953000-44956000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:44955200-44956600	ZNF genes & repeats	Pancreas	Pancrea
5	chr19:44955200-44957200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:44955200-44959800	ZNF genes & repeats	Adipose Nuclei	Adipose

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