Variant report

Variant	rs2075687
Chromosome Location	chr19:51519451-51519452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2075689	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2075690	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2075691	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2075693	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075695	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2569448	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2569449	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2569451	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2691256	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2691258	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2739430	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2739431	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2739432	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2739434	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6509511	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6509512	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7250580	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9524	0.86[EUR][1000 genomes];0.96[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
rs2075687	KLK10	cis	Skin Sun Exposed Lower leg	GTEx
rs2075687	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

Quick Search:

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

what's new

Quick links