Variant report

Variant	rs12046491
Chromosome Location	chr1:192080225-192080226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192069455..192072219-chr1:192077934..192080441,2	K562	blood:
2	chr1:192078549..192080941-chr1:192086567..192089456,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10429906	0.96[EUR][1000 genomes]
rs10737604	0.96[EUR][1000 genomes]
rs10921080	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12022579	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12024380	0.93[ASN][1000 genomes]
rs12028978	0.91[ASN][1000 genomes]
rs12029615	0.93[EUR][1000 genomes]
rs12030963	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12031703	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12032256	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12040119	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12042596	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12045881	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12047006	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12047650	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12049117	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12067233	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12755225	0.96[EUR][1000 genomes]
rs16834026	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129792	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4129793	0.91[ASN][1000 genomes]
rs4131006	0.88[ASN][1000 genomes]
rs4316340	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6428084	0.96[EUR][1000 genomes]
rs73057188	0.93[EUR][1000 genomes]
rs7416226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535425	0.96[EUR][1000 genomes]
rs9287121	0.96[EUR][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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192079000-192081600	Weak transcription	K562	blood

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