Variant report

Variant	rs11126143
Chromosome Location	chr2:67865408-67865409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10174552	0.85[ASN][1000 genomes]
rs10182699	0.85[ASN][1000 genomes]
rs10207177	0.85[ASN][1000 genomes]
rs1023692	0.90[ASN][1000 genomes]
rs10490726	0.84[ASN][1000 genomes]
rs12105010	0.86[ASN][1000 genomes]
rs12465584	0.85[ASN][1000 genomes]
rs13387688	0.86[ASN][1000 genomes]
rs1430787	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1430788	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1549783	0.89[ASN][1000 genomes]
rs17034031	0.86[ASN][1000 genomes]
rs2270349	0.85[ASN][1000 genomes]
rs28535096	0.84[ASN][1000 genomes]
rs2861647	0.85[ASN][1000 genomes]
rs2861694	0.80[EUR][1000 genomes]
rs2902026	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4141819	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4365448	0.85[ASN][1000 genomes]
rs4567918	0.85[ASN][1000 genomes]
rs4619594	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58817440	0.85[ASN][1000 genomes]
rs60984428	0.85[ASN][1000 genomes]
rs62156281	0.85[ASN][1000 genomes]
rs62156324	0.85[ASN][1000 genomes]
rs62156327	0.85[ASN][1000 genomes]
rs6546324	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6706021	0.85[ASN][1000 genomes]
rs72903715	0.84[ASN][1000 genomes]
rs7423926	0.85[ASN][1000 genomes]
rs7586016	0.85[ASN][1000 genomes]
rs7592937	0.85[ASN][1000 genomes]
rs7607299	0.85[ASN][1000 genomes]
rs9309401	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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11126143	C2orf42	cis	cerebellum	SCAN
rs11126143	NAGK	cis	cerebellum	SCAN
rs11126143	VAX2	cis	parietal	SCAN
rs11126143	SNRPG	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67864200-67867200	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr2:67864600-67866400	Enhancers	Fetal Heart	heart
3	chr2:67864800-67867000	Weak transcription	Psoas Muscle	Psoas
4	chr2:67865400-67866200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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