Variant report

Variant	rs7804075
Chromosome Location	chr7:48274197-48274198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10279899	0.84[ASN][1000 genomes]
rs10499674	0.94[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11971891	0.87[ASN][1000 genomes]
rs11973628	0.84[ASN][1000 genomes]
rs11977108	0.94[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11977113	0.94[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11979757	0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11983863	0.94[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11984356	0.83[ASN][1000 genomes]
rs12113721	0.94[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs12154357	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1405126	0.94[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs1405127	0.94[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1526095	0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1526099	0.89[CHB][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1526101	0.91[CHB][hapmap];0.91[ASN][1000 genomes]
rs1526103	0.91[ASN][1000 genomes]
rs1526105	0.96[CEU][hapmap];0.80[MEX][hapmap];0.93[TSI][hapmap];0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17132158	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17132163	0.94[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs17661073	0.89[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs17712132	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17712156	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2049513	0.94[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2049514	0.94[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2361519	0.85[CHD][hapmap];0.84[ASN][1000 genomes]
rs4917172	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55692458	0.83[ASN][1000 genomes]
rs56128450	0.84[ASN][1000 genomes]
rs56189438	0.83[ASN][1000 genomes]
rs56322739	0.88[ASN][1000 genomes]
rs56713035	0.83[ASN][1000 genomes]
rs57501478	0.91[ASN][1000 genomes]
rs57919572	0.84[ASN][1000 genomes]
rs59539486	0.83[ASN][1000 genomes]
rs59778503	0.83[ASN][1000 genomes]
rs60243824	0.83[ASN][1000 genomes]
rs60553397	0.84[ASN][1000 genomes]
rs60902279	0.91[ASN][1000 genomes]
rs60913257	0.83[ASN][1000 genomes]
rs62449168	0.91[ASN][1000 genomes]
rs62449181	0.83[ASN][1000 genomes]
rs62449183	0.83[ASN][1000 genomes]
rs62449184	0.83[ASN][1000 genomes]
rs62449185	0.83[ASN][1000 genomes]
rs62449186	0.83[ASN][1000 genomes]
rs62449188	0.83[ASN][1000 genomes]
rs62449189	0.83[ASN][1000 genomes]
rs62449190	0.83[ASN][1000 genomes]
rs6583458	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap]
rs6583483	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6583541	0.84[ASN][1000 genomes]
rs6944866	0.91[ASN][1000 genomes]
rs6945480	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs6948966	0.89[ASN][1000 genomes]
rs6974746	0.94[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6975324	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73694378	0.85[ASN][1000 genomes]
rs7776605	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs7777880	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7797192	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9784959	0.94[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1033738	chr7:48143988-48349357	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7804075	ZMIZ2	cis	parietal	SCAN
rs7804075	PDE4DIP	trans	parietal	SCAN
rs7804075	H2AFV	cis	parietal	SCAN
rs7804075	ABCA13	cis	cerebellum	SCAN
rs7804075	SNORA5C	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48253400-48278200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:48274000-48274200	Bivalent Enhancer	Aorta	Aorta

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