Variant report

Variant	rs12543525
Chromosome Location	chr8:95812058-95812059
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95809644..95812311-chr8:95818366..95820931,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10100724	0.90[ASN][1000 genomes]
rs10100860	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11785908	0.90[ASN][1000 genomes]
rs11996148	0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13249787	0.90[ASN][1000 genomes]
rs13271653	0.82[ASN][1000 genomes]
rs13279429	0.82[JPT][hapmap]
rs35769195	0.90[ASN][1000 genomes]
rs35937656	0.90[ASN][1000 genomes]
rs4236830	0.90[ASN][1000 genomes]
rs4268099	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4332100	0.90[ASN][1000 genomes]
rs4377930	0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[ASN][1000 genomes]
rs4377931	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4398879	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4448241	0.90[ASN][1000 genomes]
rs4478541	0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[ASN][1000 genomes]
rs4545065	0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[ASN][1000 genomes]
rs4548144	0.87[ASN][1000 genomes]
rs4548145	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4734288	0.82[JPT][hapmap]
rs4735323	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4735325	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6415569	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6415570	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[ASN][1000 genomes]
rs6471488	0.90[ASN][1000 genomes]
rs6471489	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6471490	0.90[ASN][1000 genomes]
rs6471491	0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[ASN][1000 genomes]
rs6471493	0.97[ASN][1000 genomes]
rs6471494	0.97[ASN][1000 genomes]
rs6985400	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6988572	0.90[ASN][1000 genomes]
rs6988791	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6992217	0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6999453	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7006999	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7017149	0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7459539	0.82[JPT][hapmap]
rs7824040	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7832492	0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7837111	0.87[ASN][1000 genomes]
rs7837249	0.82[JPT][hapmap]
rs7840272	0.90[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12543525	LAPTM4B	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95786200-95812800	Weak transcription	Gastric	stomach
2	chr8:95791400-95812400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:95799200-95814400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:95810000-95814000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:95810200-95818800	Weak transcription	K562	blood
6	chr8:95810200-95819600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:95811600-95812200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr8:95811800-95812200	Enhancers	Fetal Heart	heart

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