Variant report

Variant	rs12031330
Chromosome Location	chr1:69690806-69690807
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12027589	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12044113	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1460222	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2248186	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248429	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248430	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248557	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248562	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248764	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2815432	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2815435	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5010843	0.87[EUR][1000 genomes];1.00[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	nsv830115	chr1:69593494-69736995	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1299	chr1:69687227-69732225	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69688400-69693600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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