Variant report

Variant	rs17752149
Chromosome Location	chr8:2096278-2096279
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	chr8:2086567..2089007-chr8:2094171..2096918,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOM2-5	chr8:2095839-2096450	NONHSAT124708

Variant related genes	Relation type
ENSG00000036448	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10099055	0.92[ASN][1000 genomes]
rs10103035	0.92[ASN][1000 genomes]
rs10503170	1.00[ASN][1000 genomes]
rs1063523	0.81[ASN][1000 genomes]
rs13248197	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13260459	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13264265	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13264810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265701	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13267188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270863	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271873	0.94[ASN][1000 genomes]
rs13272507	0.97[ASN][1000 genomes]
rs13275233	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17684913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17752076	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17752155	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17752179	0.85[ASN][1000 genomes]
rs17854780	0.85[ASN][1000 genomes]
rs2280905	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28862980	0.84[ASN][1000 genomes]
rs28885149	0.84[ASN][1000 genomes]
rs28891159	0.85[ASN][1000 genomes]
rs34004096	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34039811	0.90[ASN][1000 genomes]
rs34547976	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35077455	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35241794	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35366685	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35402008	0.97[ASN][1000 genomes]
rs35862926	1.00[ASN][1000 genomes]
rs3779814	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3779816	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3779818	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3779819	0.88[ASN][1000 genomes]
rs3824167	0.98[ASN][1000 genomes]
rs4262342	0.86[ASN][1000 genomes]
rs4363227	0.87[ASN][1000 genomes]
rs4535761	0.87[ASN][1000 genomes]
rs4568639	0.81[ASN][1000 genomes]
rs4599837	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5023999	0.87[ASN][1000 genomes]
rs55806773	0.86[ASN][1000 genomes]
rs55955938	0.87[ASN][1000 genomes]
rs62480003	0.87[ASN][1000 genomes]
rs62501379	0.97[ASN][1000 genomes]
rs62501403	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs66538145	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66746701	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67313412	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67371404	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67489990	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67769214	0.97[ASN][1000 genomes]
rs68035375	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68053310	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68123268	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71499062	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73169419	0.83[ASN][1000 genomes]
rs73169431	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73169432	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73169434	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73169439	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73169447	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73169450	0.98[ASN][1000 genomes]
rs73169451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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
rs17752149	MYOM2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2076000-2109600	Weak transcription	Right Atrium	heart
2	chr8:2076400-2097800	Strong transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:2076600-2096800	Strong transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:2080800-2096800	Strong transcription	Left Ventricle	heart
5	chr8:2086200-2096800	Weak transcription	Spleen	Spleen
6	chr8:2090200-2096400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:2090200-2096600	Weak transcription	Psoas Muscle	Psoas
8	chr8:2090400-2096400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:2093000-2096600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:2093000-2103400	Weak transcription	Pancreas	Pancrea
11	chr8:2093000-2107200	Weak transcription	Gastric	stomach
12	chr8:2093200-2098400	Weak transcription	Fetal Stomach	stomach
13	chr8:2094000-2122400	Weak transcription	Right Ventricle	heart
14	chr8:2095200-2096400	Weak transcription	Brain Anterior Caudate	brain
15	chr8:2095400-2100800	Weak transcription	Fetal Thymus	thymus
16	chr8:2095400-2103200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr8:2095600-2097000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:2096200-2096400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:2096200-2097000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr8:2096200-2097600	Strong transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links