Variant report

Variant	rs514099
Chromosome Location	chr1:103287721-103287722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10047217	0.88[JPT][hapmap]
rs12046389	1.00[JPT][hapmap]
rs12143740	1.00[JPT][hapmap]
rs12144670	1.00[JPT][hapmap]
rs12733933	0.85[CHB][hapmap]
rs2126642	1.00[JPT][hapmap]
rs2126643	1.00[JPT][hapmap]
rs2199554	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2199555	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2598461	0.82[EUR][1000 genomes]
rs2616010	1.00[JPT][hapmap]
rs2616011	1.00[JPT][hapmap]
rs2622865	1.00[JPT][hapmap]
rs2708398	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3767273	1.00[JPT][hapmap]
rs471949	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs472765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs474472	0.82[EUR][1000 genomes]
rs495182	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs500936	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs520747	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs527514	0.81[EUR][1000 genomes]
rs570092	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs597499	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs620658	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs621734	0.81[CEU][hapmap]
rs665275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6682134	1.00[JPT][hapmap]
rs674479	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687616	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs688880	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7543705	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830882	chr1:103192683-103355802	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs514099	DBT	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103286800-103288000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:103287200-103287800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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