Variant report

Variant	rs1913137
Chromosome Location	chr12:85802125-85802126
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10862982	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11116805	0.93[ASN][1000 genomes]
rs11116806	0.93[ASN][1000 genomes]
rs11116808	0.91[ASN][1000 genomes]
rs11116812	0.94[ASN][1000 genomes]
rs11116815	0.89[ASN][1000 genomes]
rs11116830	0.87[ASN][1000 genomes]
rs11116852	0.82[ASN][1000 genomes]
rs11513953	0.83[EUR][1000 genomes]
rs12230759	0.87[ASN][1000 genomes]
rs12230925	0.85[ASN][1000 genomes]
rs12317867	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1398443	0.84[ASN][1000 genomes]
rs1512728	0.89[ASN][1000 genomes]
rs1512729	0.93[ASN][1000 genomes]
rs1849384	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1983264	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2063574	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2203199	0.93[ASN][1000 genomes]
rs55897040	0.84[ASN][1000 genomes]
rs57059247	0.87[ASN][1000 genomes]
rs59712244	0.87[ASN][1000 genomes]
rs60552633	0.85[ASN][1000 genomes]
rs6539894	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7138754	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7311781	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7311798	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74112007	0.94[ASN][1000 genomes]
rs74112008	0.94[ASN][1000 genomes]
rs74112009	0.94[ASN][1000 genomes]
rs74112028	0.85[ASN][1000 genomes]
rs74112030	0.87[ASN][1000 genomes]
rs74112031	0.84[ASN][1000 genomes]
rs74112083	0.82[ASN][1000 genomes]
rs74112086	0.80[ASN][1000 genomes]
rs7486781	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7952944	0.93[ASN][1000 genomes]
rs7958126	0.93[ASN][1000 genomes]
rs7961629	0.87[ASN][1000 genomes]
rs7962396	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7963815	0.87[ASN][1000 genomes]
rs7966534	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv817242	chr12:85622245-86069213	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85801000-85819800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:85801600-85802600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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