Variant report

Variant	rs12142243
Chromosome Location	chr1:239614862-239614863
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:239607588..239610439-chr1:239612059..239615016,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10495443	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12117089	0.86[EUR][1000 genomes]
rs12117673	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12118163	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12118164	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12118522	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12119752	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12120600	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12123857	0.81[JPT][hapmap]
rs12125436	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12128278	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12128683	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12136103	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12136673	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12138748	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12139749	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12141057	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12141123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12142001	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12144838	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12239665	0.85[EUR][1000 genomes]
rs16838380	0.85[EUR][1000 genomes]
rs17585014	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17645304	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60281676	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72754665	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72754669	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72754672	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72754679	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72754702	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72756703	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7522967	0.84[EUR][1000 genomes]
rs946355	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs946356	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1006640	chr1:239290853-239658788	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv535358	chr1:239290853-239658788	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	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
5	esv3373454	chr1:239495349-239670615	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873350	chr1:239498915-239648140	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239613200-239617200	Weak transcription	Gastric	stomach
2	chr1:239613200-239620400	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:239613400-239619200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:239614400-239625000	Weak transcription	Ovary	ovary

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