Variant report

Variant	rs60740187
Chromosome Location	chr15:75253279-75253280
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12050494	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12050759	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2004278	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57684159	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59270710	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60228621	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495132	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	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	nsv1612	chr15:75247725-75281284	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60740187	SCAMP5	cis	Artery Tibial	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75251800-75253600	Enhancers	HUVEC	blood vessel
2	chr15:75252000-75253400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:75252000-75255400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:75252000-75256400	Weak transcription	Lung	lung
5	chr15:75252000-75257200	Weak transcription	Pancreas	Pancrea
6	chr15:75252200-75253400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:75252400-75255600	Enhancers	Brain Germinal Matrix	brain
8	chr15:75252400-75256800	Weak transcription	NHDF-Ad	bronchial
9	chr15:75252600-75254000	Enhancers	Fetal Lung	lung
10	chr15:75252600-75254200	Enhancers	Hela-S3	cervix
11	chr15:75252800-75253400	Bivalent Enhancer	GM12878-XiMat	blood
12	chr15:75252800-75255800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr15:75253000-75253800	Weak transcription	Placenta	Placenta
14	chr15:75253000-75254000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr15:75253000-75254200	Enhancers	Stomach Mucosa	stomach
16	chr15:75253000-75255800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:75253200-75254200	Enhancers	A549	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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