Variant report

Variant	rs2739427
Chromosome Location	chr19:51515411-51515412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2075688	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2569448	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2569449	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2691256	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2739428	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2739430	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2739431	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2739432	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2739433	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2739434	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3745535	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6509511	0.80[EUR][1000 genomes]
rs9524	0.83[AMR][1000 genomes];0.80[EUR][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	nsv912291	chr19:51505725-51537682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv579961	chr19:51509726-51516015	Enhancers Weak transcription Flanking Active TSS	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
rs2739427	KLK10	cis	Skin Sun Exposed Lower leg	GTEx
rs2739427	CTC-518B2.12	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51510200-51517000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr19:51514400-51519000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:51514600-51517200	Weak transcription	Esophagus	oesophagus
4	chr19:51514800-51516200	Weak transcription	HMEC	breast
5	chr19:51514800-51517200	Weak transcription	NHEK	skin
6	chr19:51514800-51517400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:51514800-51517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:51514800-51520200	Weak transcription	Right Atrium	heart

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Input of quick search could be:

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

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