Variant report

Variant	rs1727387
Chromosome Location	chr12:119871702-119871703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10774498	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1619163	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1622645	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs1716433	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1716446	0.92[CEU][hapmap]
rs1727390	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2519539	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2519540	0.92[CEU][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2519542	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2695503	0.92[CEU][hapmap]
rs2727742	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6490255	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs697892	0.92[CEU][hapmap]
rs708874	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs708879	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs784841	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs784844	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs784853	0.86[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs810784	0.91[CEU][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899553	chr12:119837250-119876571	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr12:119851600-119872400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:119870800-119872000	Enhancers	Pancreas	Pancrea
3	chr12:119871200-119872400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:119871600-119873000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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

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