Variant report

Variant	rs11987927
Chromosome Location	chr8:2101074-2101075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10112539	0.93[EUR][1000 genomes]
rs11988606	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11991574	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13267523	0.81[EUR][1000 genomes]
rs17064772	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17064774	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17064779	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17758377	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17831401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1866719	0.89[ASN][1000 genomes]
rs2280900	1.00[EUR][1000 genomes]
rs2280903	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28612497	0.89[EUR][1000 genomes]
rs34071132	0.93[EUR][1000 genomes]
rs34760293	0.98[EUR][1000 genomes]
rs34789086	0.86[EUR][1000 genomes]
rs34804934	0.86[EUR][1000 genomes]
rs34815172	0.93[EUR][1000 genomes]
rs34826206	0.98[EUR][1000 genomes]
rs34932258	0.91[EUR][1000 genomes]
rs35433772	0.93[EUR][1000 genomes]
rs35454276	0.93[EUR][1000 genomes]
rs35668154	0.83[EUR][1000 genomes]
rs35835808	0.91[EUR][1000 genomes]
rs35843254	0.91[EUR][1000 genomes]
rs3736658	0.93[EUR][1000 genomes]
rs3779820	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3779822	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3779824	0.89[EUR][1000 genomes]
rs3779825	0.89[EUR][1000 genomes]
rs3824168	0.93[EUR][1000 genomes]
rs3824170	1.00[EUR][1000 genomes]
rs3824171	0.93[EUR][1000 genomes]
rs3824173	0.93[EUR][1000 genomes]
rs3824175	0.93[EUR][1000 genomes]
rs3824176	0.93[EUR][1000 genomes]
rs3824177	0.93[EUR][1000 genomes]
rs3824179	0.93[EUR][1000 genomes]
rs3824180	0.93[EUR][1000 genomes]
rs3824181	0.93[EUR][1000 genomes]
rs3824182	0.93[EUR][1000 genomes]
rs3824183	0.93[EUR][1000 genomes]
rs4391460	0.91[EUR][1000 genomes]
rs4395914	0.93[EUR][1000 genomes]
rs4409421	0.91[ASN][1000 genomes]
rs4637863	0.93[EUR][1000 genomes]
rs5023991	0.88[EUR][1000 genomes]
rs5023993	0.88[EUR][1000 genomes]
rs5023995	0.89[EUR][1000 genomes]
rs5023996	0.89[EUR][1000 genomes]
rs5023998	0.89[EUR][1000 genomes]
rs5029665	0.89[EUR][1000 genomes]
rs5029666	0.89[EUR][1000 genomes]
rs5029667	0.87[EUR][1000 genomes]
rs55903327	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59279920	0.93[EUR][1000 genomes]
rs60166746	0.93[EUR][1000 genomes]
rs61610885	0.93[EUR][1000 genomes]
rs62479966	0.93[EUR][1000 genomes]
rs62479969	0.93[EUR][1000 genomes]
rs62479971	0.93[EUR][1000 genomes]
rs62479972	0.93[EUR][1000 genomes]
rs62479973	0.90[EUR][1000 genomes]
rs6985716	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6991515	1.00[EUR][1000 genomes]
rs7003986	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7013774	0.83[ASN][1000 genomes]
rs7014505	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72507660	0.93[EUR][1000 genomes]
rs72621162	0.90[EUR][1000 genomes]
rs73552747	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73657731	0.93[EUR][1000 genomes]
rs73657732	0.93[EUR][1000 genomes]
rs73657733	0.93[EUR][1000 genomes]
rs73657734	0.86[EUR][1000 genomes]
rs73657735	0.93[EUR][1000 genomes]
rs73657736	0.93[EUR][1000 genomes]
rs73657737	0.93[EUR][1000 genomes]
rs73657738	0.93[EUR][1000 genomes]
rs73657739	0.93[EUR][1000 genomes]
rs73657742	0.93[EUR][1000 genomes]
rs73657743	0.86[EUR][1000 genomes]
rs73657744	0.93[EUR][1000 genomes]
rs73657745	0.93[EUR][1000 genomes]
rs73657746	0.93[EUR][1000 genomes]
rs73657747	0.93[EUR][1000 genomes]
rs73657748	0.93[EUR][1000 genomes]
rs73657749	0.93[EUR][1000 genomes]
rs73657750	0.93[EUR][1000 genomes]
rs73657751	0.93[EUR][1000 genomes]
rs73657752	0.93[EUR][1000 genomes]
rs73657753	0.93[EUR][1000 genomes]
rs73657754	0.93[EUR][1000 genomes]
rs73657755	0.89[EUR][1000 genomes]
rs73657756	0.93[EUR][1000 genomes]
rs73657757	0.93[EUR][1000 genomes]
rs73657758	0.93[EUR][1000 genomes]
rs73657760	0.91[EUR][1000 genomes]
rs73657761	0.91[EUR][1000 genomes]
rs73657762	0.91[EUR][1000 genomes]
rs73657763	0.91[EUR][1000 genomes]
rs73657766	0.81[EUR][1000 genomes]
rs73657767	0.89[EUR][1000 genomes]
rs73657770	0.86[EUR][1000 genomes]
rs73657771	0.84[EUR][1000 genomes]
rs73657774	0.89[EUR][1000 genomes]
rs73657775	0.89[EUR][1000 genomes]
rs73657776	0.89[EUR][1000 genomes]
rs73657777	0.89[EUR][1000 genomes]
rs73657778	0.89[EUR][1000 genomes]
rs73657779	0.89[EUR][1000 genomes]
rs73657780	0.89[EUR][1000 genomes]
rs73657781	0.89[EUR][1000 genomes]
rs73657783	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11987927	MYOM2	cis	lung	GTEx
rs11987927	MYOM2	cis	Whole Blood	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2076000-2109600	Weak transcription	Right Atrium	heart
2	chr8:2093000-2103400	Weak transcription	Pancreas	Pancrea
3	chr8:2093000-2107200	Weak transcription	Gastric	stomach
4	chr8:2094000-2122400	Weak transcription	Right Ventricle	heart
5	chr8:2095400-2103200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:2096400-2101600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:2096800-2102800	Weak transcription	Left Ventricle	heart
8	chr8:2097600-2104000	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:2100800-2101800	Enhancers	Fetal Thymus	thymus
10	chr8:2101000-2118000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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