Variant report

Variant	rs12053460
Chromosome Location	chr2:210330408-210330409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10173260	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10208979	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031461	0.98[ASN][1000 genomes]
rs10737939	0.99[ASN][1000 genomes]
rs10737940	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686346	0.94[ASN][1000 genomes]
rs11687844	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12052799	1.00[ASN][1000 genomes]
rs2123700	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2198475	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2198476	0.94[ASN][1000 genomes]
rs2198477	0.94[ASN][1000 genomes]
rs2198478	0.93[ASN][1000 genomes]
rs2219085	0.95[ASN][1000 genomes]
rs2365657	0.97[ASN][1000 genomes]
rs2365658	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs288046	0.90[ASN][1000 genomes]
rs288048	0.85[EUR][1000 genomes]
rs288049	0.85[EUR][1000 genomes]
rs288052	0.85[EUR][1000 genomes]
rs288062	0.93[ASN][1000 genomes]
rs288064	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs288065	0.94[ASN][1000 genomes]
rs288067	0.95[ASN][1000 genomes]
rs288068	0.95[ASN][1000 genomes]
rs2886435	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886436	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4672554	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4673481	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673482	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6435530	0.98[ASN][1000 genomes]
rs6435531	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6728378	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6738205	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740822	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7559831	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7561678	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7562585	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7568354	1.00[ASN][1000 genomes]
rs7574854	0.93[ASN][1000 genomes]
rs7580512	0.99[ASN][1000 genomes]
rs7586196	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7593377	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7601095	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs852734	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9288409	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs997109	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210306600-210337000	Weak transcription	Aorta	Aorta
2	chr2:210319800-210331200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:210319800-210341000	Weak transcription	Fetal Brain Female	brain
4	chr2:210322600-210337200	Weak transcription	Brain Anterior Caudate	brain
5	chr2:210328200-210340000	Weak transcription	Brain Germinal Matrix	brain
6	chr2:210328800-210333400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:210329000-210333400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:210329600-210339600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:210330200-210330800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:210330200-210332400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:210330400-210330600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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