Variant report

Variant	rs12206089
Chromosome Location	chr6:78069207-78069208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10455107	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10943440	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10943442	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10943444	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10943448	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10943450	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11509441	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11963068	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11963096	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12189579	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12191358	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12193279	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12193587	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12194566	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12195192	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12196751	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12196920	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12201820	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12202106	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12205293	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12207134	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12207458	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12211642	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12214471	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12214530	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12214837	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12215818	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1342630	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1343338	0.86[EUR][1000 genomes]
rs16888733	0.83[ASN][1000 genomes]
rs60223508	0.81[ASN][1000 genomes]
rs72894702	0.81[ASN][1000 genomes]
rs72896610	0.81[ASN][1000 genomes]
rs72896611	0.81[ASN][1000 genomes]
rs72896613	0.81[ASN][1000 genomes]
rs72896615	0.83[ASN][1000 genomes]
rs72896661	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72896663	0.81[ASN][1000 genomes]
rs72898730	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72898733	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72898736	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72898752	0.89[ASN][1000 genomes]
rs72898768	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72898774	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72898792	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017082	chr6:77585310-78258237	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv534282	chr6:77764575-78351994	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034979	chr6:77781244-78426249	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538324	chr6:77781244-78426249	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1015307	chr6:77902559-78352291	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1024795	chr6:78028751-78076926	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1018131	chr6:78031037-78076926	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1028259	chr6:78059491-78709871	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv538325	chr6:78059491-78709871	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78044200-78078200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:78048400-78071600	Weak transcription	NHEK	skin
3	chr6:78050200-78071800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:78050400-78070000	Weak transcription	Left Ventricle	heart
5	chr6:78053400-78071400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:78054400-78071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:78063200-78071600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:78063200-78071600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:78066400-78071200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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