Variant report

Variant	rs8119733
Chromosome Location	chr20:41406551-41406552
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:14)

rs_ID	r²[population]
rs114094	0.84[JPT][hapmap]
rs17749217	0.84[JPT][hapmap]
rs1885834	0.80[CEU][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap]
rs1973949	0.84[JPT][hapmap]
rs208254	0.82[CHD][hapmap];0.84[JPT][hapmap]
rs208255	0.84[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs208256	0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs2146615	0.80[MEX][hapmap];0.83[MKK][hapmap]
rs59111183	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6030468	0.92[JPT][hapmap]
rs6103038	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6103040	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs6103041	0.92[JPT][hapmap]
rs980929	0.86[CHD][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915994	chr20:41180550-41464507	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1058990	chr20:41289969-41543912	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544277	chr20:41289969-41543912	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8119733	DNTTIP1	cis	cerebellum	SCAN
rs8119733	TOMM34	cis	parietal	SCAN
rs8119733	SDC4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41400200-41407000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr20:41405800-41409600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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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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