Variant report

Variant	rs12443878
Chromosome Location	chr16:82659933-82659934
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10514547	0.82[EUR][1000 genomes]
rs10514548	0.85[CEU][hapmap]
rs12444338	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12598679	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1541928	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17175173	0.82[EUR][1000 genomes]
rs17175622	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17260630	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2116971	0.81[CEU][hapmap]
rs3865188	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3865190	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4597315	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4782721	1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4783241	0.87[EUR][1000 genomes]
rs4783242	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4783244	1.00[CEU][hapmap];0.84[MEX][hapmap];0.87[MKK][hapmap];0.90[TSI][hapmap]
rs59317411	0.81[EUR][1000 genomes]
rs62038459	0.82[EUR][1000 genomes]
rs62040560	0.82[EUR][1000 genomes]
rs62040561	0.82[EUR][1000 genomes]
rs7184651	1.00[CHD][hapmap]
rs7198176	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs736718	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8060301	1.00[CEU][hapmap]
rs8062260	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9939683	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9940266	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1065896	chr16:82213517-82731994	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv833305	chr16:82563888-82722084	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1059718	chr16:82564054-82810003	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1062787	chr16:82601618-82676019	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv542998	chr16:82601618-82676019	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82650400-82660600	Weak transcription	Gastric	stomach
2	chr16:82657200-82660200	Weak transcription	Aorta	Aorta
3	chr16:82657200-82660200	Weak transcription	HSMMtube	muscle
4	chr16:82657400-82660000	Weak transcription	NHEK	skin
5	chr16:82659000-82660400	Enhancers	Fetal Heart	heart
6	chr16:82659200-82660200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr16:82659600-82660000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr16:82659600-82660000	Enhancers	HSMM	muscle
9	chr16:82659800-82660000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr16:82659800-82660000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:82659800-82660200	Bivalent Enhancer	Fetal Stomach	stomach
12	chr16:82659800-82660200	Enhancers	Hela-S3	cervix
13	chr16:82659800-82660200	Bivalent Enhancer	NHLF	lung
14	chr16:82659800-82662200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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