Variant report

Variant	rs12518238
Chromosome Location	chr5:151259002-151259003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10062169	0.84[ASN][1000 genomes]
rs10078632	0.80[ASN][1000 genomes]
rs10079787	0.80[ASN][1000 genomes]
rs10463320	0.81[ASN][1000 genomes]
rs1062177	0.82[EUR][1000 genomes]
rs11167559	0.82[ASN][1000 genomes]
rs12108921	0.80[ASN][1000 genomes]
rs12109022	0.80[ASN][1000 genomes]
rs12109585	0.80[ASN][1000 genomes]
rs12515762	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12518722	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12653926	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654573	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1346489	0.97[EUR][1000 genomes]
rs1366238	0.82[ASN][1000 genomes]
rs1428159	0.84[ASN][1000 genomes]
rs1428160	0.84[ASN][1000 genomes]
rs1549622	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17804178	0.83[EUR][1000 genomes]
rs2033212	0.82[ASN][1000 genomes]
rs2347596	0.81[EUR][1000 genomes]
rs2913878	0.80[ASN][1000 genomes]
rs2913879	0.82[ASN][1000 genomes]
rs2913881	0.84[ASN][1000 genomes]
rs2913882	0.80[ASN][1000 genomes]
rs2913888	0.84[ASN][1000 genomes]
rs2913889	0.84[ASN][1000 genomes]
rs2913892	0.84[ASN][1000 genomes]
rs2913893	0.84[ASN][1000 genomes]
rs2913894	0.87[ASN][1000 genomes]
rs2915887	0.83[EUR][1000 genomes]
rs2964597	0.82[ASN][1000 genomes]
rs2964599	0.87[ASN][1000 genomes]
rs2964601	0.84[ASN][1000 genomes]
rs2964603	0.84[ASN][1000 genomes]
rs2964604	0.84[ASN][1000 genomes]
rs2964606	0.84[ASN][1000 genomes]
rs2964612	0.83[EUR][1000 genomes]
rs4075273	0.80[ASN][1000 genomes]
rs4076138	0.80[ASN][1000 genomes]
rs4259159	0.84[ASN][1000 genomes]
rs4331885	0.87[ASN][1000 genomes]
rs4478307	0.84[ASN][1000 genomes]
rs59580263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62377945	0.85[EUR][1000 genomes]
rs62394146	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62394155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62395861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6868371	0.80[ASN][1000 genomes]
rs6878691	0.80[ASN][1000 genomes]
rs6884630	0.97[EUR][1000 genomes]
rs6892117	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6896518	0.80[ASN][1000 genomes]
rs6896664	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72802204	0.81[EUR][1000 genomes]
rs72802219	0.84[ASN][1000 genomes]
rs7711609	0.80[ASN][1000 genomes]
rs7711771	0.80[ASN][1000 genomes]
rs7712779	0.83[ASN][1000 genomes]
rs7725327	0.80[ASN][1000 genomes]
rs7728956	0.82[ASN][1000 genomes]
rs7729026	0.82[ASN][1000 genomes]
rs892005	0.81[EUR][1000 genomes]
rs892006	0.81[EUR][1000 genomes]
rs919262	0.97[EUR][1000 genomes]
rs919263	0.97[EUR][1000 genomes]
rs9324712	0.80[ASN][1000 genomes]
rs9324714	0.87[ASN][1000 genomes]
rs973529	0.82[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	esv1808837	chr5:151238149-151260215	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12518238	RP11-54C4.1	cis	Thyroid	GTEx
rs12518238	RP11-54C4.1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151235200-151264200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:151256600-151259400	Weak transcription	Fetal Heart	heart

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