Variant report

Variant	rs12542334
Chromosome Location	chr8:65036547-65036548
allele	A/C
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:53)

rs_ID	r²[population]
rs10453088	0.85[EUR][1000 genomes]
rs12056484	0.89[EUR][1000 genomes]
rs12541027	0.98[EUR][1000 genomes]
rs12542914	0.89[EUR][1000 genomes]
rs12543669	0.85[EUR][1000 genomes]
rs12545053	0.85[EUR][1000 genomes]
rs12547267	0.89[EUR][1000 genomes]
rs13248130	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13251387	0.85[EUR][1000 genomes]
rs13253431	0.89[EUR][1000 genomes]
rs13254721	0.86[EUR][1000 genomes]
rs13256238	0.87[EUR][1000 genomes]
rs13271553	0.83[AFR][1000 genomes]
rs13274344	0.88[EUR][1000 genomes]
rs13280898	0.88[EUR][1000 genomes]
rs1444511	0.85[AFR][1000 genomes]
rs1485506	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1485510	0.86[EUR][1000 genomes]
rs1550730	0.85[AFR][1000 genomes]
rs17220928	0.84[EUR][1000 genomes]
rs17311772	0.98[EUR][1000 genomes]
rs17311793	0.98[EUR][1000 genomes]
rs17312403	0.85[EUR][1000 genomes]
rs1867492	0.85[EUR][1000 genomes]
rs2053644	0.87[EUR][1000 genomes]
rs2053645	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2083996	0.84[EUR][1000 genomes]
rs2083998	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2099982	0.81[AFR][1000 genomes]
rs2356339	0.86[EUR][1000 genomes]
rs2883908	0.86[EUR][1000 genomes]
rs34054660	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34337233	0.88[EUR][1000 genomes]
rs34927214	0.98[EUR][1000 genomes]
rs35273528	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35589320	0.85[EUR][1000 genomes]
rs35644708	0.98[EUR][1000 genomes]
rs35836546	0.88[EUR][1000 genomes]
rs35946908	0.86[EUR][1000 genomes]
rs36026993	0.89[EUR][1000 genomes]
rs4147346	0.83[AFR][1000 genomes]
rs4147347	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4559278	0.80[EUR][1000 genomes]
rs55985982	0.89[EUR][1000 genomes]
rs57568306	0.89[EUR][1000 genomes]
rs59234435	0.88[EUR][1000 genomes]
rs62519728	0.80[EUR][1000 genomes]
rs62521160	0.86[EUR][1000 genomes]
rs6472131	0.85[AFR][1000 genomes]
rs6998317	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7828268	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7844990	0.81[EUR][1000 genomes]
rs920875	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948343	chr8:64804219-65328394	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv890969	chr8:64807144-65047353	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv890970	chr8:64975466-65125295	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	esv3370663	chr8:65025447-65049140	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
6	nsv890971	chr8:65028814-65242166	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65028600-65038400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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