Variant report

Variant	rs12140526
Chromosome Location	chr1:192077569-192077570
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10921073	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10921074	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12062560	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12138456	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12567153	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12568555	0.83[ASN][1000 genomes]
rs17412744	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17412793	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17521629	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs17521643	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6662357	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs72730930	0.85[ASN][1000 genomes]
rs72730970	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs72730971	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs72730975	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs72730976	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7544805	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7548356	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556178	0.82[AMR][1000 genomes];0.90[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	nsv1007060	chr1:191577303-192141825	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv430047	chr1:191811587-192203678	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv548648	chr1:192001465-192096277	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192076800-192079400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:192077400-192077600	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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