Variant report

Variant	rs17718389
Chromosome Location	chr18:29368075-29368076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12957312	1.00[ASN][1000 genomes]
rs12964359	1.00[ASN][1000 genomes]
rs12967431	1.00[ASN][1000 genomes]
rs12967606	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12967642	1.00[ASN][1000 genomes]
rs1630405	1.00[ASN][1000 genomes]
rs1680645	1.00[ASN][1000 genomes]
rs17661987	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718513	1.00[ASN][1000 genomes]
rs34329580	1.00[ASN][1000 genomes]
rs34959937	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35129944	1.00[ASN][1000 genomes]
rs35217404	1.00[ASN][1000 genomes]
rs35271356	1.00[ASN][1000 genomes]
rs35703749	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501570	1.00[ASN][1000 genomes]
rs616082	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66534107	1.00[ASN][1000 genomes]
rs668996	1.00[ASN][1000 genomes]
rs71361333	1.00[ASN][1000 genomes]
rs71361335	1.00[ASN][1000 genomes]
rs71361336	1.00[ASN][1000 genomes]
rs71361341	1.00[ASN][1000 genomes]
rs71361344	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71361345	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71361358	1.00[ASN][1000 genomes]
rs71361360	1.00[ASN][1000 genomes]
rs73409433	1.00[ASN][1000 genomes]
rs73411554	1.00[ASN][1000 genomes]
rs8083292	1.00[ASN][1000 genomes]
rs8083894	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8084382	1.00[ASN][1000 genomes]
rs8084675	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9952659	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17718389	DSG1	cis	parietal	SCAN
rs17718389	KIAA1012	cis	cerebellum	SCAN
rs17718389	UBE2K	trans	parietal	SCAN
rs17718389	C18orf16	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29363200-29375600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29367400-29368400	Enhancers	Fetal Intestine Small	intestine
3	chr18:29367800-29372200	Weak transcription	Fetal Intestine Large	intestine

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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

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