Variant report

Variant	rs17250061
Chromosome Location	chr20:24556797-24556798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12480522	1.00[JPT][hapmap]
rs1326298	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326301	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1575872	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17250068	1.00[JPT][hapmap]
rs17823746	0.83[MEX][hapmap]
rs1887057	1.00[JPT][hapmap]
rs2024608	0.83[MEX][hapmap]
rs2026565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4813521	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813524	0.83[MEX][hapmap]
rs4815282	1.00[JPT][hapmap]
rs6049791	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049793	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049794	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6114780	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs7268862	1.00[JPT][hapmap]
rs8113863	1.00[YRI][hapmap]
rs8119770	1.00[YRI][hapmap]
rs8119899	1.00[YRI][hapmap]
rs9753747	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17250061	ABHD12	cis	parietal	SCAN
rs17250061	SMCR5	trans	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24538800-24570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:24549800-24565800	Weak transcription	Thymus	Thymus
3	chr20:24552000-24562200	Weak transcription	Right Ventricle	heart
4	chr20:24553800-24564800	Weak transcription	Brain Anterior Caudate	brain
5	chr20:24554000-24560400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr20:24554000-24564800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr20:24554600-24560400	Weak transcription	Brain Angular Gyrus	brain
8	chr20:24554600-24562000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr20:24555800-24564000	Weak transcription	Brain Hippocampus Middle	brain
10	chr20:24556000-24560200	Weak transcription	Brain Substantia Nigra	brain

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