Variant report

Variant	rs680321
Chromosome Location	chr18:29797958-29797959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11081752	0.91[ASN][1000 genomes]
rs1561815	0.93[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs1561816	0.93[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs16962815	0.93[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs16962818	0.93[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs335516	0.82[MEX][hapmap]
rs335518	0.82[MEX][hapmap]
rs4799330	0.91[ASN][1000 genomes]
rs4799641	0.88[ASN][1000 genomes]
rs616114	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs625188	0.96[ASN][1000 genomes]
rs673408	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs677887	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs679163	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7233927	0.90[ASN][1000 genomes]
rs9953120	0.91[ASN][1000 genomes]
rs9965114	0.93[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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs680321	ASXL3	cis	parietal	SCAN
rs680321	CHST9	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29795200-29799400	Weak transcription	Fetal Intestine Small	intestine
2	chr18:29796800-29799400	Weak transcription	Fetal Intestine Large	intestine

Quick Search:

Input of quick search could be:

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

what's new

Quick links