Variant report

Variant	rs72622930
Chromosome Location	chr3:46610350-46610351
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2102943	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4117520	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58498208	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62247858	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6797789	0.89[ASN][1000 genomes]
rs6802820	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9860011	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[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	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46608200-46613200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:46608200-46616400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:46608400-46613000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:46608400-46613200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:46608400-46614200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:46608400-46614400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:46608400-46617200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:46608400-46625400	Weak transcription	Right Atrium	heart

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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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