Variant report

Variant	rs16997942
Chromosome Location	chr20:16587230-16587231
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13042615	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs13044683	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs16997830	1.00[AFR][1000 genomes]
rs17681726	0.85[EUR][1000 genomes]
rs2179905	0.96[ASN][1000 genomes]
rs2328045	0.93[ASN][1000 genomes]
rs2328047	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34548254	0.93[ASN][1000 genomes]
rs34678561	0.96[ASN][1000 genomes]
rs4813225	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs55776240	0.93[ASN][1000 genomes]
rs6034535	0.86[CHB][hapmap]
rs6044121	0.85[CHB][hapmap]
rs6044124	0.85[CHB][hapmap]
rs6111195	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057674	chr20:16564642-16593209	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	esv2760669	chr20:16564654-16587606	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv470542	chr20:16567202-16588308	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv1055217	chr20:16568062-16596470	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv458942	chr20:16568129-16589003	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv585653	chr20:16568129-16589003	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	nsv1064197	chr20:16575463-16587230	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16997942	C20orf23	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16582200-16587400	Weak transcription	Adipose Nuclei	Adipose
2	chr20:16582600-16587800	Weak transcription	Fetal Brain Female	brain
3	chr20:16582600-16588000	Weak transcription	Fetal Muscle Leg	muscle
4	chr20:16584200-16587400	Weak transcription	Fetal Brain Male	brain
5	chr20:16586600-16587800	Weak transcription	Fetal Lung	lung
6	chr20:16587000-16587600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr20:16587000-16588600	Enhancers	Fetal Intestine Small	intestine
8	chr20:16587000-16593200	Enhancers	Fetal Intestine Large	intestine
9	chr20:16587200-16587400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr20:16587200-16588000	Enhancers	Sigmoid Colon	Sigmoid Colon

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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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