Variant report

Variant	rs8033125
Chromosome Location	chr15:75374970-75374971
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11072519	0.87[CEU][hapmap]
rs12148355	0.84[ASN][1000 genomes]
rs12591175	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.96[ASN][1000 genomes]
rs12591994	1.00[CEU][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs12592477	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs12593542	0.86[JPT][hapmap]
rs12594117	1.00[CEU][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs2289582	0.86[JPT][hapmap]
rs2304904	1.00[CEU][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs28394281	0.81[ASN][1000 genomes]
rs3743212	0.90[JPT][hapmap]
rs3812943	1.00[CEU][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs3816261	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs3910748	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs58645417	0.81[ASN][1000 genomes]
rs59303424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6495135	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs6495138	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap]
rs6495142	1.00[CEU][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs6495146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6495148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7163390	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs7166105	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7167415	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap]
rs7172065	1.00[CEU][hapmap]
rs7172715	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7173218	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs7174129	1.00[CEU][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap]
rs7177109	0.97[ASN][1000 genomes]
rs7181942	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs72475969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7342591	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs7342601	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs73432941	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73438537	0.83[ASN][1000 genomes]
rs73438554	0.96[ASN][1000 genomes]
rs73438569	0.97[ASN][1000 genomes]
rs74023908	0.81[ASN][1000 genomes]
rs74023935	0.97[ASN][1000 genomes]
rs74023936	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8024931	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8031545	1.00[CEU][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap]
rs8038365	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8039433	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9673012	1.00[CEU][hapmap];0.86[JPT][hapmap]

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	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8033125	SCAMP5	cis	Esophagus Mucosa	GTEx
rs8033125	SCAMP5	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75374000-75375400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr15:75374600-75375800	Weak transcription	Primary monocytes fromperipheralblood	blood

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