Variant report

Variant	rs11126395
Chromosome Location	chr2:73564964-73564965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10165862	0.86[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10175529	0.83[ASN][1000 genomes]
rs10206188	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11126396	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126399	0.86[CEU][hapmap]
rs11689392	0.81[AMR][1000 genomes]
rs11693531	0.82[ASN][1000 genomes]
rs11898362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465867	0.85[CEU][hapmap];0.82[ASN][1000 genomes]
rs1403412	0.95[CEU][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1522926	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1851546	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1852644	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2091022	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2421489	0.95[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap]
rs2901437	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35885918	0.82[ASN][1000 genomes]
rs6546824	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6546826	0.95[CEU][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs6546827	0.83[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6546829	0.86[CEU][hapmap];0.81[ASN][1000 genomes]
rs6706235	0.86[CEU][hapmap];0.82[ASN][1000 genomes]
rs6706409	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6710659	0.86[CEU][hapmap];0.83[ASN][1000 genomes]
rs6716776	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6728128	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6747145	0.85[CEU][hapmap];0.82[ASN][1000 genomes]
rs6748040	0.85[CEU][hapmap];0.82[ASN][1000 genomes]
rs7560272	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7567017	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7567343	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7573275	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7574291	0.95[CEU][hapmap];0.81[JPT][hapmap]
rs7576824	0.85[CEU][hapmap];0.82[ASN][1000 genomes]
rs7604588	0.89[EUR][1000 genomes];0.92[ASN][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	nsv1013190	chr2:73489679-73572643	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11126395	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs11126395	ALMS1P	cis	Whole Blood	GTEx
rs11126395	TPRKB	Cis_1M	lymphoblastoid	RTeQTL
rs11126395	ALMS1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73564600-73565200	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:73564600-73565800	Enhancers	Dnd41	blood
3	chr2:73564800-73565400	Enhancers	GM12878-XiMat	blood

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