Variant report

Variant	rs2280903
Chromosome Location	chr8:2091139-2091140
allele	A/G
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: 113 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10112539	0.88[EUR][1000 genomes]
rs11987927	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11988606	0.98[EUR][1000 genomes]
rs11991574	0.90[EUR][1000 genomes]
rs13267523	0.83[AMR][1000 genomes]
rs17064772	0.95[EUR][1000 genomes]
rs17064774	0.95[EUR][1000 genomes]
rs17064779	0.95[EUR][1000 genomes]
rs17758377	0.84[EUR][1000 genomes]
rs17831401	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2280900	0.95[EUR][1000 genomes]
rs28612497	0.93[EUR][1000 genomes]
rs34071132	0.89[EUR][1000 genomes]
rs34760293	0.93[EUR][1000 genomes]
rs34789086	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34804934	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34815172	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34826206	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34932258	0.86[EUR][1000 genomes]
rs35433772	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35454276	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35668154	0.82[AMR][1000 genomes]
rs35835808	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35843254	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3736658	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3779820	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779822	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779824	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3779825	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3824168	0.89[EUR][1000 genomes]
rs3824170	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3824171	0.89[EUR][1000 genomes]
rs3824173	0.82[AMR][1000 genomes];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	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4395914	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4637863	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5023991	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5023993	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5023995	0.93[EUR][1000 genomes]
rs5023996	0.93[EUR][1000 genomes]
rs5023998	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5029665	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5029666	0.82[AMR][1000 genomes];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]
rs6985716	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6991515	0.95[EUR][1000 genomes]
rs7003986	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7014505	0.95[EUR][1000 genomes]
rs72507660	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72621162	0.95[EUR][1000 genomes]
rs73552747	0.95[EUR][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	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657743	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73657744	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657745	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657746	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657747	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657748	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657749	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657750	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657751	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657752	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657753	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657754	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657755	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73657756	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657757	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657758	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73657760	0.91[EUR][1000 genomes]
rs73657761	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73657762	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73657763	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73657766	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73657767	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73657768	0.83[EUR][1000 genomes]
rs73657770	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73657771	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73657773	0.86[AMR][1000 genomes]
rs73657774	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73657775	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73657776	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73657777	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73657778	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73657779	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73657780	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73657781	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73657783	0.95[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
rs2280903	MYOM2	cis	Whole Blood	GTEx

Chromatin state (count:45 , 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	chr8:2085600-2091200	Weak transcription	Pancreas	Pancrea
22	chr8:2085600-2092600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:2086000-2092600	Weak transcription	Liver	Liver
24	chr8:2086200-2096800	Weak transcription	Spleen	Spleen
25	chr8:2086400-2091200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:2086400-2094200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:2086600-2091200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:2086600-2092600	Weak transcription	Fetal Stomach	stomach
29	chr8:2087200-2092600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:2087200-2095400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr8:2087400-2095400	Enhancers	Primary T cells from cord blood	blood
32	chr8:2088000-2094200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:2088200-2091200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:2089200-2091200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:2089400-2095400	Weak transcription	Ovary	ovary
36	chr8:2090200-2096400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:2090200-2096600	Weak transcription	Psoas Muscle	Psoas
38	chr8:2090400-2093400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr8:2090400-2095000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:2090400-2096400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:2090800-2092600	Strong transcription	Fetal Muscle Leg	muscle
42	chr8:2091000-2092800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr8:2091000-2094000	Strong transcription	Right Ventricle	heart
44	chr8:2091000-2095400	Enhancers	Fetal Thymus	thymus
45	chr8:2091000-2095600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links