Variant report

Variant	rs7519220
Chromosome Location	chr1:225863345-225863346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10915857	0.80[AFR][1000 genomes]
rs12048956	0.83[AFR][1000 genomes]
rs1857009	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs4653647	0.81[AFR][1000 genomes]
rs4653648	0.81[AFR][1000 genomes]
rs4653649	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4653650	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4653651	0.97[YRI][hapmap];0.91[AFR][1000 genomes]
rs6694288	0.87[YRI][hapmap]
rs6694856	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs7365361	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7365591	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7366333	0.85[AFR][1000 genomes]
rs7521926	0.92[AFR][1000 genomes]
rs7552440	0.96[YRI][hapmap];0.92[AFR][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	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225842000-225865000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:225859400-225865000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:225859400-225865000	Weak transcription	HMEC	breast
4	chr1:225859600-225865000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:225859600-225865200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:225863000-225863800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:225863200-225863600	Enhancers	Fetal Heart	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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