Variant report

Variant	rs1390027
Chromosome Location	chr8:62728573-62728574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10096292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096602	0.84[ASN][1000 genomes]
rs10096647	0.92[CEU][hapmap];0.82[CHB][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10107589	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs10111518	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs10111559	0.83[ASN][1000 genomes]
rs10957205	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1157914	0.80[CHB][hapmap];0.82[CHD][hapmap];0.83[ASN][1000 genomes]
rs12676768	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253877	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390028	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1565914	0.80[CHB][hapmap];0.83[ASN][1000 genomes]
rs17228674	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1845597	0.84[ASN][1000 genomes]
rs34219337	0.83[EUR][1000 genomes]
rs34770002	0.81[EUR][1000 genomes]
rs35498166	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62507562	0.82[EUR][1000 genomes]
rs6987929	0.81[AMR][1000 genomes]
rs7011933	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7824857	0.80[CHB][hapmap];0.85[CHD][hapmap];0.84[ASN][1000 genomes]
rs7841136	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs9298055	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs993792	0.80[CHB][hapmap];0.85[CHD][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv3363755	chr8:62702301-62764282	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1390027	ASPH	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62723600-62736000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:62727800-62735400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:62728200-62728800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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