Variant report

Variant	rs12981039
Chromosome Location	chr19:51519480-51519481
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1061368	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1829971	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2075696	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2075802	0.81[ASN][1000 genomes]
rs2222554	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2304156	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2569439	0.89[EUR][1000 genomes]
rs2569440	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2569443	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2659096	0.83[AMR][1000 genomes]
rs2691209	0.84[ASN][1000 genomes]
rs2691257	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2739429	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7259451	0.88[AMR][1000 genomes];0.93[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

No data

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

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