Variant report

Variant	rs6509512
Chromosome Location	chr19:51519588-51519589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2075687	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2075689	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2075690	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2075691	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2075693	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2075695	0.85[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2569448	0.91[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2569449	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2569451	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2691256	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2691258	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2739430	0.88[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2739431	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2739432	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2739434	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3760738	0.82[MEX][hapmap]
rs6509511	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7250580	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9524	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6509512	KLK10	cis	Skin Sun Exposed Lower leg	GTEx
rs6509512	CTC-518B2.12	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51514800-51520200	Weak transcription	Right Atrium	heart
2	chr19:51517400-51519600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:51517400-51520200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:51517800-51519600	Weak transcription	NHEK	skin
5	chr19:51518800-51520000	Weak transcription	Ovary	ovary
6	chr19:51518800-51520000	Enhancers	HMEC	breast
7	chr19:51519000-51519800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr19:51519200-51519600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:51519200-51519800	Genic enhancers	Esophagus	oesophagus
10	chr19:51519200-51520000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:51519400-51520000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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