Variant report

Variant	rs9944594
Chromosome Location	chr18:27881856-27881857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28645202	0.87[ASN][1000 genomes]
rs34641465	0.94[EUR][1000 genomes]
rs58225948	0.82[AFR][1000 genomes]
rs8097322	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8098127	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9953434	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9957140	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9962388	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9962704	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057946	chr18:27239754-28146129	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
2	nsv576600	chr18:27423375-28197518	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
3	nsv909501	chr18:27797293-27976234	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
4	nsv909503	chr18:27819663-27935931	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region miRNA	n/a	inside rSNPs	diseases
5	nsv909504	chr18:27819663-27959102	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
6	nsv909505	chr18:27836611-27959102	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
7	nsv576626	chr18:27853483-27921936	Enhancers Weak transcription	Chromatin interactive region miRNA	n/a	inside rSNPs	diseases
8	nsv909506	chr18:27858581-27959102	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9944594	RNF138	cis	cerebellum	SCAN
rs9944594	DSC3	cis	cerebellum	SCAN
rs9944594	DSG1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:27881600-27882200	Enhancers	NHEK	skin
2	chr18:27881600-27882800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:27881600-27882800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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