Variant report

Variant	rs17749217
Chromosome Location	chr20:41403661-41403662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10485696	0.92[JPT][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap]
rs114094	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1885834	0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1973949	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.87[ASN][1000 genomes]
rs208254	1.00[JPT][hapmap];0.86[MEX][hapmap];0.89[ASN][1000 genomes]
rs208255	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs208256	0.84[JPT][hapmap]
rs55651075	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6103038	0.84[JPT][hapmap]
rs6103040	0.84[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs73098049	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8119733	0.84[JPT][hapmap]
rs980929	0.81[CEU][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]

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
rs17749217	DNTTIP1	cis	cerebellum	SCAN
rs17749217	PPP1R16B	cis	cerebellum	SCAN
rs17749217	DBNDD2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41400200-41405800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr20:41400200-41407000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr20:41403000-41405800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

Quick Search:

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

what's new

Quick links