Variant report

Variant	rs2169272
Chromosome Location	chr4:73807772-73807773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10006155	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10029999	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11733810	0.94[ASN][1000 genomes]
rs13102676	0.93[ASN][1000 genomes]
rs13107015	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13109785	0.93[ASN][1000 genomes]
rs13130436	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13130647	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13140508	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1476223	0.97[ASN][1000 genomes]
rs17176542	0.93[ASN][1000 genomes]
rs2114158	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28769606	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28787569	0.82[ASN][1000 genomes]
rs55897524	0.94[ASN][1000 genomes]
rs55986483	0.94[ASN][1000 genomes]
rs57639620	0.80[ASN][1000 genomes]
rs6414650	0.92[ASN][1000 genomes]
rs6446903	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6851058	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6854461	0.94[ASN][1000 genomes]
rs7660451	0.87[ASN][1000 genomes]
rs7669430	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7673902	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7679185	0.94[ASN][1000 genomes]
rs7688718	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7699591	0.93[ASN][1000 genomes]
rs9685919	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs997886	0.97[ASN][1000 genomes]
rs997887	0.97[ASN][1000 genomes]
rs9994297	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9997454	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1005704	chr4:73708248-73907315	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv829971	chr4:73709753-73880451	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1013174	chr4:73785324-74031884	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv537137	chr4:73785324-74031884	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2169272	PF4	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73805400-73808600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:73807600-73809600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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