Variant report

Variant	rs233223
Chromosome Location	chr18:29795101-29795102
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12969067	1.00[ASN][1000 genomes]
rs17663067	0.85[CEU][hapmap];0.87[GIH][hapmap];1.00[ASN][1000 genomes]
rs17735714	1.00[ASN][1000 genomes]
rs335517	0.81[TSI][hapmap]
rs35001736	1.00[ASN][1000 genomes]
rs35117504	1.00[ASN][1000 genomes]
rs619294	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66693026	1.00[ASN][1000 genomes]
rs666950	0.83[EUR][1000 genomes]
rs670059	0.88[EUR][1000 genomes]
rs674372	1.00[CHD][hapmap]

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	nsv1056007	chr18:29711974-29899564	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv833616	chr18:29792336-29964212	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs233223	ASXL3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29784600-29795200	Enhancers	Fetal Intestine Large	intestine
2	chr18:29786800-29795200	Enhancers	Fetal Intestine Small	intestine

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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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