Variant report

Variant	rs12428041
Chromosome Location	chr13:47684542-47684543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11617108	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1431769	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58706600	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61952794	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61952795	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61952817	0.89[ASN][1000 genomes]
rs73178129	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9526275	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9534555	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3394678	chr13:47678184-48039379	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47683200-47685600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:47683400-47684600	Enhancers	K562	blood
3	chr13:47683600-47684800	Weak transcription	NHEK	skin
4	chr13:47683800-47687800	Weak transcription	HMEC	breast
5	chr13:47683800-47695200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:47684000-47685000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr13:47684000-47686600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:47684400-47685000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:47684400-47686200	Enhancers	iPS-20b 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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