Variant report

Variant	rs2163719
Chromosome Location	chr12:105700039-105700040
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10083056	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10083061	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10083199	0.98[ASN][1000 genomes]
rs10735400	0.97[ASN][1000 genomes]
rs10735402	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10746014	0.97[ASN][1000 genomes]
rs10746015	0.97[ASN][1000 genomes]
rs10778384	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10778385	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10778390	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778391	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861381	0.97[ASN][1000 genomes]
rs10861382	0.97[ASN][1000 genomes]
rs10861383	0.97[ASN][1000 genomes]
rs10861384	0.97[ASN][1000 genomes]
rs10861386	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861387	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861390	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861391	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861393	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861395	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861397	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112453	0.97[ASN][1000 genomes]
rs11112457	0.97[ASN][1000 genomes]
rs11112458	0.97[ASN][1000 genomes]
rs11112460	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1821235	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6539203	0.97[ASN][1000 genomes]
rs7298167	0.97[ASN][1000 genomes]
rs7299882	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300095	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300376	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300512	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302933	0.97[ASN][1000 genomes]
rs7305292	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7305413	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311273	0.97[ASN][1000 genomes]
rs7312484	0.97[ASN][1000 genomes]
rs7961016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966786	0.97[ASN][1000 genomes]
rs9669597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3394212	chr12:105693734-105708035	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
4	esv3358347	chr12:105693757-105707693	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105692200-105703600	Weak transcription	A549	lung
2	chr12:105692200-105708000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:105695400-105708200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:105695800-105709200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:105696200-105701200	Weak transcription	HUVEC	blood vessel
6	chr12:105696200-105709400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:105698200-105702400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:105698800-105701200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:105700000-105704000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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