Variant report

Variant	rs72475969
Chromosome Location	chr15:75372377-75372378
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75369498..75372424-chr15:75378377..75380907,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12148355	0.82[ASN][1000 genomes]
rs12591175	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12591994	0.82[ASN][1000 genomes]
rs12594117	0.82[ASN][1000 genomes]
rs2289582	0.81[ASN][1000 genomes]
rs2304904	0.82[ASN][1000 genomes]
rs28394281	0.82[ASN][1000 genomes]
rs3812943	0.82[ASN][1000 genomes]
rs3816261	0.98[ASN][1000 genomes]
rs3910748	0.82[ASN][1000 genomes]
rs58294763	0.81[ASN][1000 genomes]
rs58645417	0.83[ASN][1000 genomes]
rs59094290	0.80[ASN][1000 genomes]
rs59303424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61166993	0.80[ASN][1000 genomes]
rs6495135	0.80[ASN][1000 genomes]
rs6495136	0.81[ASN][1000 genomes]
rs6495137	0.80[ASN][1000 genomes]
rs6495138	0.80[ASN][1000 genomes]
rs6495140	0.80[ASN][1000 genomes]
rs6495142	0.82[ASN][1000 genomes]
rs6495146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7166105	0.99[ASN][1000 genomes]
rs7167415	0.80[ASN][1000 genomes]
rs7172989	0.80[ASN][1000 genomes]
rs7173218	0.82[ASN][1000 genomes]
rs7174129	0.80[ASN][1000 genomes]
rs7177109	0.99[ASN][1000 genomes]
rs7181942	0.80[ASN][1000 genomes]
rs7182286	0.80[ASN][1000 genomes]
rs7342591	0.80[ASN][1000 genomes]
rs7342601	0.80[ASN][1000 genomes]
rs73432941	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73436579	0.80[ASN][1000 genomes]
rs73438537	0.85[ASN][1000 genomes]
rs73438554	0.99[ASN][1000 genomes]
rs73438569	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74023908	0.83[ASN][1000 genomes]
rs74023935	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74023936	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8024931	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8033125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8034149	0.81[ASN][1000 genomes]
rs8036573	0.80[ASN][1000 genomes]
rs8038365	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8039433	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672996	0.80[ASN][1000 genomes]
rs9673012	0.80[ASN][1000 genomes]
rs9788648	0.80[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	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
rs72475969	SCAMP5	cis	Artery Tibial	GTEx
rs72475969	SCAMP5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75370400-75373000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:75371000-75374000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr15:75371000-75374200	Weak transcription	Monocytes-CD14+_RO01746	blood

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