Variant report

Variant	rs804687
Chromosome Location	chr20:22241100-22241101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs169228	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs199782	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs200364	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs200367	0.83[ASN][1000 genomes]
rs200368	0.95[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap]
rs200370	0.83[ASN][1000 genomes]
rs200371	0.83[ASN][1000 genomes]
rs427808	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6137590	0.88[ASN][1000 genomes]
rs6137596	0.83[ASN][1000 genomes]
rs709009	0.95[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs804682	0.85[AFR][1000 genomes]
rs804691	0.80[ASN][1000 genomes]
rs804692	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs804693	0.86[AMR][1000 genomes];0.83[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	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv544212	chr20:22233715-22256861	Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs804687	NAPB	cis	cerebellum	SCAN
rs804687	NXT1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22240800-22241600	Enhancers	Fetal Stomach	stomach
2	chr20:22241000-22242000	Enhancers	Dnd41	blood
3	chr20:22241000-22242200	Enhancers	Colon Smooth Muscle	Colon
4	chr20:22241000-22242200	Enhancers	Fetal Lung	lung
5	chr20:22241000-22242600	Enhancers	Rectal Smooth Muscle	rectum

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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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