Variant report

Variant	rs1458062
Chromosome Location	chr3:56016020-56016021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1023880	0.82[ASN][1000 genomes]
rs3816575	0.82[ASN][1000 genomes]
rs4974157	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7613818	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013063	chr3:55835413-56173713	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1009709	chr3:56000827-56294945	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1458062	ABHD14A	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56003800-56017000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:56003800-56023000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:56013200-56022200	Weak transcription	Pancreas	Pancrea
4	chr3:56015600-56016600	Weak transcription	Fetal Heart	heart
5	chr3:56015800-56016200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:56015800-56020400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:56015800-56020600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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