Variant report

Variant	rs10740041
Chromosome Location	chr10:52552420-52552421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52383161..52385801-chr10:52551039..52553128,2	K562	blood:

Variant related genes	Relation type
ENSG00000198964	Chromatin interaction
ENSG00000226200	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10740043	0.84[AFR][1000 genomes]
rs10821826	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16914267	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2820743	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2820760	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2820762	1.00[CHB][hapmap]
rs4078160	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245007	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4245008	1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4256922	1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382847	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4445583	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4466777	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4619096	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4935002	0.83[ASN][1000 genomes]
rs4935190	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61857132	0.81[EUR][1000 genomes]
rs6479731	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072584	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7084132	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035197	chr10:52446582-52622349	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs10740041	ASAH2	cis	Thyroid	GTEx
rs10740041	ASAH2B	cis	Thyroid	GTEx
rs10740041	ASAH2	cis	Artery Tibial	GTEx
rs10740041	ASAH2B	cis	Esophagus Muscularis	GTEx
rs10740041	ASAH2B	cis	Muscle Skeletal	GTEx
rs10740041	ASAH2B	cis	lung	GTEx
rs10740041	ASAH2B	cis	Artery Tibial	GTEx
rs10740041	ASAH2	cis	Adipose Subcutaneous	GTEx
rs10740041	ASAH2B	cis	Heart Left Ventricle	GTEx
rs10740041	ASAH2B	cis	Esophagus Mucosa	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52549400-52554200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:52549600-52562800	Weak transcription	Liver	Liver

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