Variant report

Variant	rs2374514
Chromosome Location	chr12:105990738-105990739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10861461	0.80[ASN][1000 genomes]
rs11112595	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112596	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1317555	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1526844	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1526846	0.83[ASN][1000 genomes]
rs1806811	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049571	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2049572	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2374515	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2694388	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2694390	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694394	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2694395	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2694398	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2694399	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2694400	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2694401	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694404	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711732	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2711734	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2711735	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2711736	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711737	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2711739	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2711741	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2888859	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4468444	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs876929	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs885131	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs941105	0.85[EUR][1000 genomes];0.87[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	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105989200-105990800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:105989400-105990800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:105989400-105991200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:105989600-105990800	Enhancers	Placenta	Placenta
5	chr12:105990400-105994400	Weak transcription	Ovary	ovary

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