Variant report

Variant	rs6509511
Chromosome Location	chr19:51516837-51516838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51512058..51513939-chr19:51514740..51518594,3	K562	blood:

Variant related genes	Relation type
ENSG00000213022	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2075687	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2075688	0.80[EUR][1000 genomes]
rs2075689	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2075690	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2075691	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2075693	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2075695	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2569448	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2569449	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2569451	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691256	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2691258	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2739427	0.80[EUR][1000 genomes]
rs2739428	0.80[AMR][1000 genomes]
rs2739430	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2739431	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2739432	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2739433	0.83[EUR][1000 genomes]
rs2739434	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509512	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7250580	0.85[ASN][1000 genomes]
rs9524	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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
rs6509511	KLK10	cis	Skin Sun Exposed Lower leg	GTEx
rs6509511	CTC-518B2.12	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:9 , 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	chr19:51514800-51517200	Weak transcription	NHEK	skin
5	chr19:51514800-51517400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:51514800-51517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:51514800-51520200	Weak transcription	Right Atrium	heart
8	chr19:51516000-51517400	Weak transcription	Ovary	ovary
9	chr19:51516600-51517200	Weak transcription	HMEC	breast

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