Variant report

Variant	rs12427448
Chromosome Location	chr13:39665405-39665406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1012243	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1043348	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11147746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428640	0.86[EUR][1000 genomes]
rs12428949	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12584883	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12585367	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17059019	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17826235	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148419	1.00[ASN][1000 genomes]
rs3751375	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60968029	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61737582	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7323843	0.83[EUR][1000 genomes]
rs73456199	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs943233	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1035255	chr13:39618302-39715336	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	2 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	chr13:39660600-39665800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:39664000-39665800	Enhancers	Brain Substantia Nigra	brain
3	chr13:39664200-39665600	Enhancers	Brain Hippocampus Middle	brain
4	chr13:39664200-39667200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr13:39664800-39666000	Enhancers	Brain Cingulate Gyrus	brain
6	chr13:39665000-39665600	Enhancers	Brain Anterior Caudate	brain
7	chr13:39665000-39666600	Enhancers	Brain Angular Gyrus	brain

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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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