Variant report

Variant	rs6985716
Chromosome Location	chr8:2097204-2097205
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:2092603..2094179-chr8:2096997..2098830,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10112539	0.88[EUR][1000 genomes]
rs11987927	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11988606	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11991574	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17064772	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17064774	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17064779	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17758377	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17831401	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2280900	0.95[EUR][1000 genomes]
rs2280903	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28612497	0.93[EUR][1000 genomes]
rs34071132	0.89[EUR][1000 genomes]
rs34760293	0.93[EUR][1000 genomes]
rs34789086	0.81[EUR][1000 genomes]
rs34804934	0.81[EUR][1000 genomes]
rs34815172	0.89[EUR][1000 genomes]
rs34826206	0.93[EUR][1000 genomes]
rs34932258	0.86[EUR][1000 genomes]
rs35433772	0.89[EUR][1000 genomes]
rs35454276	0.89[EUR][1000 genomes]
rs35835808	0.86[EUR][1000 genomes]
rs35843254	0.86[EUR][1000 genomes]
rs3736658	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3779820	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779822	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779824	0.93[EUR][1000 genomes]
rs3779825	0.93[EUR][1000 genomes]
rs3824168	0.89[EUR][1000 genomes]
rs3824170	0.95[EUR][1000 genomes]
rs3824171	0.89[EUR][1000 genomes]
rs3824173	0.89[EUR][1000 genomes]
rs3824175	0.89[EUR][1000 genomes]
rs3824176	0.89[EUR][1000 genomes]
rs3824177	0.89[EUR][1000 genomes]
rs3824179	0.89[EUR][1000 genomes]
rs3824180	0.89[EUR][1000 genomes]
rs3824181	0.89[EUR][1000 genomes]
rs3824182	0.89[EUR][1000 genomes]
rs3824183	0.89[EUR][1000 genomes]
rs4391460	0.87[EUR][1000 genomes]
rs4395914	0.89[EUR][1000 genomes]
rs4409421	0.91[ASN][1000 genomes]
rs4637863	0.89[EUR][1000 genomes]
rs5023991	0.93[EUR][1000 genomes]
rs5023993	0.93[EUR][1000 genomes]
rs5023995	0.93[EUR][1000 genomes]
rs5023996	0.93[EUR][1000 genomes]
rs5023998	0.93[EUR][1000 genomes]
rs5029665	0.93[EUR][1000 genomes]
rs5029666	0.93[EUR][1000 genomes]
rs5029667	0.91[EUR][1000 genomes]
rs59279920	0.89[EUR][1000 genomes]
rs60166746	0.89[EUR][1000 genomes]
rs61610885	0.89[EUR][1000 genomes]
rs62479966	0.89[EUR][1000 genomes]
rs62479969	0.89[EUR][1000 genomes]
rs62479971	0.89[EUR][1000 genomes]
rs62479972	0.89[EUR][1000 genomes]
rs62479973	0.86[EUR][1000 genomes]
rs6991515	0.95[EUR][1000 genomes]
rs7003986	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7013774	0.83[ASN][1000 genomes]
rs7014505	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72507660	0.89[EUR][1000 genomes]
rs72621162	0.95[EUR][1000 genomes]
rs73552747	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73657731	0.88[EUR][1000 genomes]
rs73657732	0.89[EUR][1000 genomes]
rs73657733	0.89[EUR][1000 genomes]
rs73657734	0.81[EUR][1000 genomes]
rs73657735	0.89[EUR][1000 genomes]
rs73657736	0.89[EUR][1000 genomes]
rs73657737	0.89[EUR][1000 genomes]
rs73657738	0.89[EUR][1000 genomes]
rs73657739	0.89[EUR][1000 genomes]
rs73657742	0.89[EUR][1000 genomes]
rs73657743	0.81[EUR][1000 genomes]
rs73657744	0.89[EUR][1000 genomes]
rs73657745	0.89[EUR][1000 genomes]
rs73657746	0.89[EUR][1000 genomes]
rs73657747	0.89[EUR][1000 genomes]
rs73657748	0.89[EUR][1000 genomes]
rs73657749	0.89[EUR][1000 genomes]
rs73657750	0.89[EUR][1000 genomes]
rs73657751	0.89[EUR][1000 genomes]
rs73657752	0.89[EUR][1000 genomes]
rs73657753	0.89[EUR][1000 genomes]
rs73657754	0.89[EUR][1000 genomes]
rs73657755	0.85[EUR][1000 genomes]
rs73657756	0.89[EUR][1000 genomes]
rs73657757	0.89[EUR][1000 genomes]
rs73657758	0.89[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	0.85[EUR][1000 genomes]
rs73657767	0.93[EUR][1000 genomes]
rs73657768	0.83[EUR][1000 genomes]
rs73657770	0.91[EUR][1000 genomes]
rs73657771	0.88[EUR][1000 genomes]
rs73657774	0.93[EUR][1000 genomes]
rs73657775	0.93[EUR][1000 genomes]
rs73657776	0.93[EUR][1000 genomes]
rs73657777	0.93[EUR][1000 genomes]
rs73657778	0.93[EUR][1000 genomes]
rs73657779	0.93[EUR][1000 genomes]
rs73657780	0.93[EUR][1000 genomes]
rs73657781	0.93[EUR][1000 genomes]
rs73657783	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6985716	MYOM2	cis	lung	GTEx
rs6985716	MYOM2	cis	Whole Blood	GTEx
rs6985716	MYOM2	cis	multi-tissue	Pritchard

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2076000-2109600	Weak transcription	Right Atrium	heart
2	chr8:2076400-2097800	Strong transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:2093000-2103400	Weak transcription	Pancreas	Pancrea
4	chr8:2093000-2107200	Weak transcription	Gastric	stomach
5	chr8:2093200-2098400	Weak transcription	Fetal Stomach	stomach
6	chr8:2094000-2122400	Weak transcription	Right Ventricle	heart
7	chr8:2095400-2100800	Weak transcription	Fetal Thymus	thymus
8	chr8:2095400-2103200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:2096200-2097600	Strong transcription	Fetal Muscle Leg	muscle
10	chr8:2096400-2101600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:2096800-2101000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:2096800-2102800	Weak transcription	Left Ventricle	heart
13	chr8:2097000-2099000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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