Variant report

Variant	rs12119752
Chromosome Location	chr1:239684585-239684586
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:239683408..239685554-chr1:240066661..240068503,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10495443	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12117673	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12118163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118164	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12118522	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12120600	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12125436	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12128278	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12128683	0.82[AMR][1000 genomes]
rs12136103	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12136673	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141123	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12142001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142243	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12144838	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12239665	0.90[EUR][1000 genomes]
rs16838380	0.90[EUR][1000 genomes]
rs17585014	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60281676	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72754665	0.82[AMR][1000 genomes]
rs72754669	0.82[AMR][1000 genomes]
rs72754702	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72756703	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs946355	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs946356	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002301	chr1:239182255-239774393	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833037	chr1:239522168-239699412	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3377526	chr1:239623743-240111639	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr1:239679800-239685600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:239680200-239689200	Weak transcription	Ovary	ovary
3	chr1:239680200-239700400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:239680400-239688400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:239684000-239685600	Weak transcription	Pancreas	Pancrea

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