Variant report

Variant	rs72900694
Chromosome Location	chr11:45861405-45861406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10462026	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10838526	0.97[EUR][1000 genomes]
rs11038668	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11038670	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038671	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038675	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11038679	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038680	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038686	0.98[EUR][1000 genomes]
rs11038689	0.98[EUR][1000 genomes]
rs11038700	0.83[EUR][1000 genomes]
rs11038703	0.82[EUR][1000 genomes]
rs12364060	0.85[EUR][1000 genomes]
rs1401417	0.98[EUR][1000 genomes]
rs17787106	0.98[EUR][1000 genomes]
rs17787136	0.89[EUR][1000 genomes]
rs4756029	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4756030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4756032	0.98[EUR][1000 genomes]
rs4756036	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55923741	0.95[EUR][1000 genomes]
rs56152508	0.98[EUR][1000 genomes]
rs56330140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121775	0.98[EUR][1000 genomes]
rs7123390	0.85[EUR][1000 genomes]
rs72900638	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72900650	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72900652	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72900692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902412	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72902436	0.98[EUR][1000 genomes]
rs72902439	0.98[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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72900694	MAPK8IP1	cis	Whole Blood	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45845800-45869000	Weak transcription	Right Atrium	heart
2	chr11:45856200-45868600	Weak transcription	Left Ventricle	heart
3	chr11:45856800-45864600	Weak transcription	K562	blood
4	chr11:45861400-45862400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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