Variant report

Variant	rs13248197
Chromosome Location	chr8:2101439-2101440
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10099055	0.99[ASN][1000 genomes]
rs10103035	0.99[ASN][1000 genomes]
rs10503170	0.93[ASN][1000 genomes]
rs1063523	0.84[ASN][1000 genomes]
rs11136470	0.80[ASN][1000 genomes]
rs13260459	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13264265	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13264810	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13265701	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267188	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13270863	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13271873	0.91[ASN][1000 genomes]
rs13272507	0.94[ASN][1000 genomes]
rs13275233	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17684913	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17752076	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17752149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17752155	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17854780	0.90[ASN][1000 genomes]
rs2280905	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28788232	0.86[ASN][1000 genomes]
rs28862980	0.81[ASN][1000 genomes]
rs28885149	0.81[ASN][1000 genomes]
rs28891159	0.82[ASN][1000 genomes]
rs34004096	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34039811	0.93[ASN][1000 genomes]
rs34547976	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35077455	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35241794	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35366685	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35402008	0.94[ASN][1000 genomes]
rs35862926	0.93[ASN][1000 genomes]
rs3779814	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3779816	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3779818	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3779819	0.93[ASN][1000 genomes]
rs3824167	0.91[ASN][1000 genomes]
rs4262342	0.91[ASN][1000 genomes]
rs4363227	0.90[ASN][1000 genomes]
rs4535761	0.92[ASN][1000 genomes]
rs4568639	0.86[ASN][1000 genomes]
rs4599837	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5023999	0.92[ASN][1000 genomes]
rs55806773	0.91[ASN][1000 genomes]
rs55955938	0.92[ASN][1000 genomes]
rs62480003	0.92[ASN][1000 genomes]
rs62501379	0.90[ASN][1000 genomes]
rs62501403	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66538145	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66746701	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs67313412	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs67371404	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs67489990	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs67769214	0.90[ASN][1000 genomes]
rs68035375	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs68053310	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs68123268	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71499062	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73169419	0.86[ASN][1000 genomes]
rs73169431	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73169432	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73169434	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73169439	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73169447	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73169450	0.91[ASN][1000 genomes]
rs73169451	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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
rs13248197	MYOM2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2076000-2109600	Weak transcription	Right Atrium	heart
2	chr8:2093000-2103400	Weak transcription	Pancreas	Pancrea
3	chr8:2093000-2107200	Weak transcription	Gastric	stomach
4	chr8:2094000-2122400	Weak transcription	Right Ventricle	heart
5	chr8:2095400-2103200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:2096400-2101600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:2096800-2102800	Weak transcription	Left Ventricle	heart
8	chr8:2097600-2104000	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:2100800-2101800	Enhancers	Fetal Thymus	thymus
10	chr8:2101000-2118000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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