Variant report

Variant	rs11904517
Chromosome Location	chr2:33892393-33892394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10166261	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10168835	0.80[YRI][hapmap]
rs10193965	0.83[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10206913	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10209549	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10210466	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11893685	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11893956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11901345	1.00[EUR][1000 genomes]
rs13382801	1.00[EUR][1000 genomes]
rs13386750	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13386888	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13387013	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13387494	1.00[EUR][1000 genomes]
rs13394725	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13394729	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13394903	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13418425	1.00[EUR][1000 genomes]
rs13420195	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13421445	1.00[EUR][1000 genomes]
rs13422585	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013668	1.00[EUR][1000 genomes]
rs1900779	1.00[EUR][1000 genomes]
rs2029043	1.00[EUR][1000 genomes]
rs2029044	1.00[EUR][1000 genomes]
rs2029045	1.00[EUR][1000 genomes]
rs28710791	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57815046	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58024266	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58859108	1.00[EUR][1000 genomes]
rs61266239	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6543730	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6543731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6543732	1.00[AMR][1000 genomes]
rs6543734	0.82[AFR][1000 genomes]
rs6712560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6714152	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6725745	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6725864	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6726438	1.00[EUR][1000 genomes]
rs6729557	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756873	1.00[EUR][1000 genomes]
rs72867445	1.00[EUR][1000 genomes]
rs72867461	1.00[EUR][1000 genomes]
rs72867501	1.00[EUR][1000 genomes]
rs72869103	1.00[EUR][1000 genomes]
rs72869105	1.00[EUR][1000 genomes]
rs7577994	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7601673	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917372	0.87[EUR][1000 genomes]

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	esv3350238	chr2:33849408-33979026	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11904517	GMPR	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33880600-33895800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:33889200-33895600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:33891200-33903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:33891600-33903000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:33891800-33892600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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