Variant report

Variant	rs2280905
Chromosome Location	chr8:2091227-2091228
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	chr8:2088536..2090295-chr8:2090683..2094194,3	K562	blood:

Variant related genes	Relation type
ENSG00000036448	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10503170	0.86[ASN][1000 genomes]
rs1063523	0.91[ASN][1000 genomes]
rs13248197	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13260459	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13264265	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13264810	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13265701	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13267188	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13270863	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13271873	0.80[ASN][1000 genomes]
rs13272507	0.83[ASN][1000 genomes]
rs13275233	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17684913	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17752076	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17752149	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17752155	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17752179	0.95[ASN][1000 genomes]
rs28788232	0.90[ASN][1000 genomes]
rs28862980	0.94[ASN][1000 genomes]
rs28885149	0.94[ASN][1000 genomes]
rs28891159	0.95[ASN][1000 genomes]
rs34004096	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34039811	0.80[ASN][1000 genomes]
rs34547976	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35077455	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35241794	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35366685	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35402008	0.83[ASN][1000 genomes]
rs35862926	0.86[ASN][1000 genomes]
rs3779814	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3779816	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3779818	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3824167	0.88[ASN][1000 genomes]
rs4599837	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62501379	0.87[ASN][1000 genomes]
rs66538145	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66746701	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs67313412	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs67371404	0.85[ASN][1000 genomes]
rs67489990	0.85[ASN][1000 genomes]
rs67769214	0.87[ASN][1000 genomes]
rs68035375	0.85[ASN][1000 genomes]
rs68053310	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs68123268	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71499062	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73169431	0.82[AMR][1000 genomes]
rs73169432	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73169434	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73169439	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73169447	0.84[ASN][1000 genomes]
rs73169450	0.86[ASN][1000 genomes]
rs73169451	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2280905	MYOM2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2075600-2092600	Weak transcription	Esophagus	oesophagus
2	chr8:2075800-2091400	Weak transcription	Gastric	stomach
3	chr8:2076000-2092800	Weak transcription	Brain Angular Gyrus	brain
4	chr8:2076000-2093400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:2076000-2094400	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:2076000-2109600	Weak transcription	Right Atrium	heart
7	chr8:2076200-2092400	Weak transcription	HSMMtube	muscle
8	chr8:2076400-2097800	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:2076600-2092800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:2076600-2096800	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:2079400-2094600	Weak transcription	Fetal Heart	heart
12	chr8:2079400-2095800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:2079600-2093600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:2079800-2093400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:2080800-2096800	Strong transcription	Left Ventricle	heart
16	chr8:2082400-2091400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr8:2082400-2093200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:2082600-2092400	Weak transcription	Aorta	Aorta
19	chr8:2084400-2091400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr8:2085400-2094600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:2085600-2092600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:2086000-2092600	Weak transcription	Liver	Liver
23	chr8:2086200-2096800	Weak transcription	Spleen	Spleen
24	chr8:2086400-2094200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:2086600-2092600	Weak transcription	Fetal Stomach	stomach
26	chr8:2087200-2092600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:2087200-2095400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr8:2087400-2095400	Enhancers	Primary T cells from cord blood	blood
29	chr8:2088000-2094200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr8:2089400-2095400	Weak transcription	Ovary	ovary
31	chr8:2090200-2096400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:2090200-2096600	Weak transcription	Psoas Muscle	Psoas
33	chr8:2090400-2093400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr8:2090400-2095000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:2090400-2096400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:2090800-2092600	Strong transcription	Fetal Muscle Leg	muscle
37	chr8:2091000-2092800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr8:2091000-2094000	Strong transcription	Right Ventricle	heart
39	chr8:2091000-2095400	Enhancers	Fetal Thymus	thymus
40	chr8:2091000-2095600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:2091200-2091400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:2091200-2091400	Bivalent Enhancer	Thymus	Thymus
43	chr8:2091200-2091800	Genic enhancers	Pancreas	Pancrea
44	chr8:2091200-2092600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr8:2091200-2092800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr8:2091200-2093000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:2091200-2093200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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