Variant report

Variant	rs12541289
Chromosome Location	chr8:20224986-20224987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1038465	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10503678	0.85[AMR][1000 genomes]
rs11204110	0.84[AMR][1000 genomes]
rs12541135	0.83[AMR][1000 genomes]
rs12542760	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12543131	0.85[AMR][1000 genomes]
rs12543855	0.85[AMR][1000 genomes]
rs12544052	0.81[AMR][1000 genomes]
rs12544080	0.81[AMR][1000 genomes]
rs12544394	0.85[AMR][1000 genomes]
rs12544659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12549080	0.81[AMR][1000 genomes]
rs12550451	0.83[AMR][1000 genomes]
rs12679658	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12681832	0.82[AMR][1000 genomes]
rs13248765	0.85[AMR][1000 genomes]
rs13249689	0.82[AMR][1000 genomes]
rs13256064	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13276179	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13278066	0.85[AMR][1000 genomes]
rs13278974	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1484800	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2062347	0.84[AMR][1000 genomes]
rs2062348	0.85[AMR][1000 genomes]
rs2410641	0.81[AMR][1000 genomes]
rs2410643	0.84[AMR][1000 genomes]
rs34324466	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34368954	0.85[AMR][1000 genomes]
rs34393111	0.82[AMR][1000 genomes]
rs34738114	0.81[AMR][1000 genomes]
rs35102761	0.85[AMR][1000 genomes]
rs35267049	0.82[AMR][1000 genomes]
rs35851624	0.85[AMR][1000 genomes]
rs35946940	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4269558	0.82[AMR][1000 genomes]
rs4270981	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4376510	0.82[AMR][1000 genomes]
rs4397421	0.83[AMR][1000 genomes]
rs4397422	0.83[AMR][1000 genomes]
rs4451325	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4493920	0.80[AMR][1000 genomes]
rs4922167	0.85[AMR][1000 genomes]
rs4922168	0.85[AMR][1000 genomes]
rs4922169	0.83[AMR][1000 genomes]
rs4922170	0.83[AMR][1000 genomes]
rs4922171	0.85[AMR][1000 genomes]
rs4922172	0.85[AMR][1000 genomes]
rs4922176	0.82[AMR][1000 genomes]
rs57307831	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57421611	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58488103	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66866121	0.85[AMR][1000 genomes]
rs754455	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs900955	0.84[AMR][1000 genomes]
rs900956	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9325868	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20217600-20226400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:20219600-20226400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:20219800-20226400	Weak transcription	HSMMtube	muscle
4	chr8:20221800-20226400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:20221800-20226600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:20221800-20226600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:20222000-20226400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:20222200-20226400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:20222400-20226600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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