Variant report

Variant	rs10753780
Chromosome Location	chr1:168842901-168842902
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10489364	0.91[CHB][hapmap];0.81[CHD][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap]
rs10753781	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10800392	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10800393	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10919006	0.87[ASN][1000 genomes]
rs10919011	0.91[CHB][hapmap];0.91[CHD][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap]
rs1407477	0.90[JPT][hapmap]
rs1570335	0.85[TSI][hapmap]
rs1575329	1.00[ASN][1000 genomes]
rs1885557	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065129	0.91[CHB][hapmap];0.81[CHD][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap]
rs34298853	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4656163	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4656622	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4656624	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6427155	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6657987	0.91[CHB][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap]
rs6666564	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6670083	0.85[TSI][hapmap]
rs6683127	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6683236	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6683991	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6694810	1.00[ASN][1000 genomes]
rs6702913	1.00[ASN][1000 genomes]
rs715008	0.96[ASN][1000 genomes]
rs7514435	0.85[TSI][hapmap]
rs7525262	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7544924	0.86[EUR][1000 genomes]
rs7550083	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs857633	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs857635	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv437258	chr1:168824111-168890420	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10753780	POGK	cis	cerebellum	SCAN
rs10753780	MAEL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168838800-168843200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:168841600-168850400	Weak transcription	Fetal Heart	heart

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