Variant report

Variant	rs12543148
Chromosome Location	chr8:20291027-20291028
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10111066	0.91[ASN][1000 genomes]
rs11204113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11204115	0.90[ASN][1000 genomes]
rs11986452	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11987582	0.88[ASN][1000 genomes]
rs12543189	0.89[ASN][1000 genomes]
rs12550719	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677076	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12681299	0.90[ASN][1000 genomes]
rs13254166	0.89[ASN][1000 genomes]
rs13259724	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13262070	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13262804	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13262864	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13266470	0.89[ASN][1000 genomes]
rs13269469	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13270638	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13282008	0.90[ASN][1000 genomes]
rs17092364	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17092415	0.92[ASN][1000 genomes]
rs17092418	0.92[ASN][1000 genomes]
rs17092433	0.90[ASN][1000 genomes]
rs1967996	0.90[ASN][1000 genomes]
rs2170176	0.88[ASN][1000 genomes]
rs2410646	0.89[ASN][1000 genomes]
rs2410647	0.89[ASN][1000 genomes]
rs2410649	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2410650	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2898502	0.89[ASN][1000 genomes]
rs2898503	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2898504	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2898505	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35321574	0.86[EUR][1000 genomes]
rs35994919	0.92[ASN][1000 genomes]
rs4372014	0.89[ASN][1000 genomes]
rs4922192	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4922198	0.92[ASN][1000 genomes]
rs4922199	0.90[ASN][1000 genomes]
rs4922207	0.81[ASN][1000 genomes]
rs5025883	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5025884	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5025885	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57007589	0.92[ASN][1000 genomes]
rs62500019	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6982875	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7007186	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7387821	0.90[ASN][1000 genomes]
rs7814633	0.95[ASN][1000 genomes]
rs7829640	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7845281	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs900953	0.88[ASN][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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS 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	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 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	chr8:20280000-20291800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:20283200-20293000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:20287200-20292000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:20289600-20292600	Weak transcription	Stomach Mucosa	stomach
5	chr8:20291000-20291400	Enhancers	HUES48 Cell Line	embryonic stem cell

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