Variant report

Variant	rs2739401
Chromosome Location	chr19:51433048-51433049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10164366	0.88[ASN][1000 genomes]
rs12459790	0.88[ASN][1000 genomes]
rs12460497	0.88[ASN][1000 genomes]
rs12461743	0.94[ASN][1000 genomes]
rs1654546	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1654548	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1701905	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1701910	0.88[ASN][1000 genomes]
rs17727736	0.94[ASN][1000 genomes]
rs17800825	0.94[ASN][1000 genomes]
rs2472258	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2569524	0.88[ASN][1000 genomes]
rs2659081	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs268913	0.83[ASN][1000 genomes]
rs268914	0.83[ASN][1000 genomes]
rs2739402	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73600813	0.94[ASN][1000 genomes]
rs73932685	0.83[ASN][1000 genomes]
rs9304706	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv961236	chr19:51429291-51435801	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51429800-51433200	Weak transcription	HMEC	breast
2	chr19:51429800-51433200	Weak transcription	NHEK	skin
3	chr19:51429800-51433400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr19:51429800-51433400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr19:51430400-51435200	Weak transcription	Hela-S3	cervix
6	chr19:51432400-51433400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:51432800-51433600	Enhancers	Brain Hippocampus Middle	brain
8	chr19:51432800-51435400	Weak transcription	Esophagus	oesophagus
9	chr19:51432800-51437400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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