Variant report

Variant	rs6991515
Chromosome Location	chr8:2076446-2076447
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10101799	0.86[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]
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]
rs2280900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2280903	0.95[EUR][1000 genomes]
rs28569941	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28612497	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34071132	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34760293	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34789086	0.86[EUR][1000 genomes]
rs34804934	0.86[EUR][1000 genomes]
rs34815172	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34826206	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34932258	0.91[EUR][1000 genomes]
rs35433772	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35454276	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35668154	0.83[EUR][1000 genomes]
rs35835808	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35843254	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36098404	0.80[ASN][1000 genomes]
rs3736658	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3779820	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3779822	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3779824	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3779825	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3824168	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3824170	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3824171	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3824173	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3824175	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3824176	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3824177	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3824179	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3824180	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3824181	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3824182	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3824183	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4391460	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4395914	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4637863	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5023991	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5023993	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5023995	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5023996	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5023998	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5029665	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5029666	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5029667	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59279920	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60166746	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61610885	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62479966	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62479969	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62479971	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62479972	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62479973	0.90[EUR][1000 genomes]
rs6985716	0.95[EUR][1000 genomes]
rs7003986	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7014505	1.00[EUR][1000 genomes]
rs72507660	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72621162	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73552747	1.00[EUR][1000 genomes]
rs73657731	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73657732	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657733	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657734	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73657735	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657736	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657737	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657738	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657739	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657742	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657743	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73657744	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657745	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657746	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657747	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657748	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73657749	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657750	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657751	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657752	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657753	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657754	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657755	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657756	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657757	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657758	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657760	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657761	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73657762	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657763	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657766	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73657767	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657770	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657771	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73657774	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657775	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657776	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657777	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657778	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657779	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657780	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73657781	0.89[EUR][1000 genomes];0.81[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
rs6991515	MYOM2	cis	Whole Blood	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2074800-2076600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:2074800-2076600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:2075000-2076600	Active TSS	Primary B cells from cord blood	blood
4	chr8:2075200-2076600	Active TSS	Fetal Brain Male	brain
5	chr8:2075400-2076600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:2075400-2076600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:2075400-2076600	Weak transcription	Right Ventricle	heart
8	chr8:2075400-2076600	Active TSS	HMEC	breast
9	chr8:2075400-2077800	Weak transcription	Psoas Muscle	Psoas
10	chr8:2075400-2078600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr8:2075400-2084000	Weak transcription	Spleen	Spleen
12	chr8:2075600-2076600	Weak transcription	Left Ventricle	heart
13	chr8:2075600-2092600	Weak transcription	Esophagus	oesophagus
14	chr8:2075800-2079000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:2075800-2080800	Weak transcription	Pancreas	Pancrea
16	chr8:2075800-2086200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:2075800-2091400	Weak transcription	Gastric	stomach
18	chr8:2076000-2076600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:2076000-2076600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr8:2076000-2076600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:2076000-2076800	Enhancers	Primary hematopoietic stem cells	blood
22	chr8:2076000-2076800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr8:2076000-2076800	Enhancers	Fetal Intestine Small	intestine
24	chr8:2076000-2078400	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:2076000-2078600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:2076000-2079000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr8:2076000-2082400	Weak transcription	Aorta	Aorta
28	chr8:2076000-2085200	Weak transcription	Brain Anterior Caudate	brain
29	chr8:2076000-2085200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:2076000-2087000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:2076000-2092800	Weak transcription	Brain Angular Gyrus	brain
32	chr8:2076000-2093400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:2076000-2094400	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:2076000-2109600	Weak transcription	Right Atrium	heart
35	chr8:2076200-2076600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:2076200-2076600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:2076200-2076600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr8:2076200-2076600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:2076200-2076600	Enhancers	Brain Substantia Nigra	brain
40	chr8:2076200-2076600	Enhancers	Fetal Heart	heart
41	chr8:2076200-2076600	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:2076200-2076600	Flanking Active TSS	Dnd41	blood
43	chr8:2076200-2076800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr8:2076200-2076800	Enhancers	Fetal Intestine Large	intestine
45	chr8:2076200-2077000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr8:2076200-2077000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr8:2076200-2077000	Enhancers	Thymus	Thymus
48	chr8:2076200-2078600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:2076200-2078800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr8:2076200-2083600	Enhancers	Fetal Thymus	thymus

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