Variant report

Variant	rs400151
Chromosome Location	chr1:112587758-112587759
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:112548280..112551041-chr1:112585557..112588277,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12724483	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12749667	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12751286	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1372861	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443925	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166555	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs171994	1.00[ASN][1000 genomes]
rs17739527	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819209	1.00[ASN][1000 genomes]
rs3008534	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3017628	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34751177	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367572	1.00[ASN][1000 genomes]
rs373157	1.00[ASN][1000 genomes]
rs374902	1.00[ASN][1000 genomes]
rs374958	1.00[ASN][1000 genomes]
rs4088223	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430680	1.00[ASN][1000 genomes]
rs432663	1.00[ASN][1000 genomes]
rs434800	1.00[ASN][1000 genomes]
rs436173	1.00[ASN][1000 genomes]
rs436818	1.00[ASN][1000 genomes]
rs441740	1.00[ASN][1000 genomes]
rs443625	1.00[ASN][1000 genomes]
rs450822	1.00[ASN][1000 genomes]
rs455228	1.00[ASN][1000 genomes]
rs460443	1.00[ASN][1000 genomes]
rs461311	1.00[ASN][1000 genomes]
rs461553	1.00[ASN][1000 genomes]
rs462936	1.00[ASN][1000 genomes]
rs463983	1.00[ASN][1000 genomes]
rs464357	1.00[ASN][1000 genomes]
rs464819	1.00[ASN][1000 genomes]
rs466206	1.00[ASN][1000 genomes]
rs4838935	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609882	1.00[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	nsv831048	chr1:112459697-112680279	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv831059	chr1:112569062-112724725	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 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	chr1:112582800-112587800	Enhancers	Fetal Stomach	stomach
2	chr1:112584800-112588600	Weak transcription	Right Atrium	heart
3	chr1:112587200-112587800	Enhancers	Fetal Heart	heart
4	chr1:112587200-112587800	Enhancers	Right Ventricle	heart
5	chr1:112587400-112587800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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