Variant report

Variant	rs2280900
Chromosome Location	chr8:2076757-2076758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10101799	0.87[ASN][1000 genomes]
rs10112539	0.93[EUR][1000 genomes]
rs11987927	1.00[EUR][1000 genomes]
rs11988606	0.98[EUR][1000 genomes]
rs11991574	0.95[EUR][1000 genomes]
rs13267523	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17064772	1.00[EUR][1000 genomes]
rs17064774	1.00[EUR][1000 genomes]
rs17064779	1.00[EUR][1000 genomes]
rs17758377	0.88[EUR][1000 genomes]
rs17831401	1.00[EUR][1000 genomes]
rs2280903	0.95[EUR][1000 genomes]
rs28569941	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28612497	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34071132	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34760293	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34789086	0.86[EUR][1000 genomes]
rs34804934	0.86[EUR][1000 genomes]
rs34815172	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34826206	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34932258	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35433772	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35454276	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35668154	0.83[EUR][1000 genomes]
rs35835808	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35843254	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36098404	0.81[ASN][1000 genomes]
rs3736658	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3779820	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3779822	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3779824	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3779825	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3824168	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3824170	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3824171	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3824173	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3824175	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3824176	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3824177	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3824179	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3824180	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3824181	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3824182	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3824183	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4391460	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4395914	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4637863	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5023991	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5023993	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5023995	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5023996	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5023998	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5029665	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5029666	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5029667	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59279920	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60166746	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61610885	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62479966	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62479969	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62479971	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62479972	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62479973	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6985716	0.95[EUR][1000 genomes]
rs6991515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7003986	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7014505	1.00[EUR][1000 genomes]
rs72507660	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72621162	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73552747	1.00[EUR][1000 genomes]
rs73657731	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73657732	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657733	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657734	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657735	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657736	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657737	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657738	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657739	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657742	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657743	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657744	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657745	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657746	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657747	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657748	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657749	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657750	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657751	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657752	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657753	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657754	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657755	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657756	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657757	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657758	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657760	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657761	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657762	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657763	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657766	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657767	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657770	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657771	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657773	0.80[ASN][1000 genomes]
rs73657774	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657775	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657776	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657777	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657778	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657779	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657780	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657781	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657783	1.00[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2280900	MYOM2	cis	Whole Blood	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2075400-2077800	Weak transcription	Psoas Muscle	Psoas
2	chr8:2075400-2078600	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr8:2075400-2084000	Weak transcription	Spleen	Spleen
4	chr8:2075600-2092600	Weak transcription	Esophagus	oesophagus
5	chr8:2075800-2079000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:2075800-2080800	Weak transcription	Pancreas	Pancrea
7	chr8:2075800-2086200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:2075800-2091400	Weak transcription	Gastric	stomach
9	chr8:2076000-2076800	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:2076000-2076800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr8:2076000-2076800	Enhancers	Fetal Intestine Small	intestine
12	chr8:2076000-2078400	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:2076000-2078600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:2076000-2079000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:2076000-2082400	Weak transcription	Aorta	Aorta
16	chr8:2076000-2085200	Weak transcription	Brain Anterior Caudate	brain
17	chr8:2076000-2085200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:2076000-2087000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:2076000-2092800	Weak transcription	Brain Angular Gyrus	brain
20	chr8:2076000-2093400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:2076000-2094400	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:2076000-2109600	Weak transcription	Right Atrium	heart
23	chr8:2076200-2076800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr8:2076200-2076800	Enhancers	Fetal Intestine Large	intestine
25	chr8:2076200-2077000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr8:2076200-2077000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:2076200-2077000	Enhancers	Thymus	Thymus
28	chr8:2076200-2078600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:2076200-2078800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr8:2076200-2083600	Enhancers	Fetal Thymus	thymus
31	chr8:2076200-2085200	Weak transcription	Liver	Liver
32	chr8:2076200-2092400	Weak transcription	HSMMtube	muscle
33	chr8:2076400-2076800	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:2076400-2076800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:2076400-2076800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:2076400-2076800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:2076400-2076800	Enhancers	Duodenum Mucosa	Duodenum
38	chr8:2076400-2076800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr8:2076400-2078800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:2076400-2079000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr8:2076400-2079000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr8:2076400-2079200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr8:2076400-2086600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:2076400-2097800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:2076600-2076800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:2076600-2076800	Genic enhancers	Left Ventricle	heart
47	chr8:2076600-2077000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:2076600-2077000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:2076600-2077000	Enhancers	Dnd41	blood
50	chr8:2076600-2077600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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