Variant report

Variant	rs8044004
Chromosome Location	chr16:71868168-71868169
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10852505	0.82[JPT][hapmap]
rs11075910	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11639902	0.82[JPT][hapmap]
rs11861296	0.82[JPT][hapmap]
rs12149460	0.82[JPT][hapmap]
rs12444594	0.91[EUR][1000 genomes]
rs12447045	0.89[YRI][hapmap]
rs12708919	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap]
rs13332180	0.82[ASW][hapmap]
rs17286411	0.94[ASW][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs17358402	1.00[CHB][hapmap]
rs1834036	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2288030	1.00[CEU][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2878494	0.82[JPT][hapmap]
rs35619990	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4538017	0.82[ASW][hapmap]
rs4788450	0.88[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs4788561	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788567	0.82[ASW][hapmap]
rs4788568	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4788569	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4788575	1.00[CEU][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4788579	0.88[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs8044335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9932707	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs8044004	TMEM208	cis	parietal	SCAN
rs8044004	MARVELD3	cis	lymphoblastoid	seeQTL
rs8044004	ZFHX3	cis	parietal	SCAN
rs8044004	ZFP1	trans	cerebellum	SCAN
rs8044004	MTSS1L	cis	parietal	SCAN
rs8044004	PSMD7	cis	parietal	SCAN
rs8044004	HPR	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71867800-71868200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
2	chr16:71868000-71868400	Weak transcription	Fetal Kidney	kidney

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