Variant report

Variant	rs8113617
Chromosome Location	chr19:40052957-40052958
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10439100	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12461934	0.86[ASN][1000 genomes]
rs12608613	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs1368468	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs1433106	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1991831	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs4447549	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4802038	0.88[ASN][1000 genomes]
rs4803260	0.88[ASN][1000 genomes]
rs6508867	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6508868	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7245901	0.91[ASN][1000 genomes]
rs7248933	0.88[ASN][1000 genomes]
rs7250238	0.88[ASN][1000 genomes]
rs8106020	0.86[ASN][1000 genomes]
rs8108097	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8110685	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8182614	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv34120	chr19:40044635-40131820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40048600-40053600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:40050400-40055400	Weak transcription	GM12878-XiMat	blood
3	chr19:40050800-40053200	Weak transcription	Placenta	Placenta

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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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