Variant report

Variant	rs4403789
Chromosome Location	chr11:17731063-17731064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10766423	0.83[ASN][1000 genomes]
rs10766425	0.85[EUR][1000 genomes]
rs12785942	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2336846	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2336847	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2336848	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2526551	0.84[ASN][1000 genomes]
rs2878806	0.87[ASW][hapmap];0.81[TSI][hapmap]
rs3858506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3858507	0.83[ASN][1000 genomes]
rs3901226	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[MEX][hapmap]
rs3911833	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[MEX][hapmap]
rs4081578	0.87[ASW][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4756910	0.83[ASN][1000 genomes]
rs4756912	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs4756914	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4757568	0.87[ASW][hapmap];0.83[YRI][hapmap]
rs4757569	0.83[YRI][hapmap]
rs4757570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.83[ASN][1000 genomes]
rs4757574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4757575	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6486393	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7101870	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7109072	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap]
rs7113869	0.82[EUR][1000 genomes]
rs7123420	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv467717	chr11:17713507-17791822	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv553588	chr11:17713507-17791822	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv825772	chr11:17723530-17783128	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3345421	chr11:17730076-17734574	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1037585	chr11:17730586-17768346	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4403789	CACNA1F	trans	parietal	SCAN
rs4403789	SNORA21	trans	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17728800-17735600	Enhancers	Fetal Muscle Leg	muscle
2	chr11:17729800-17736000	Weak transcription	Right Atrium	heart
3	chr11:17730200-17735600	Weak transcription	Psoas Muscle	Psoas
4	chr11:17730200-17735600	Weak transcription	HSMMtube	muscle
5	chr11:17730600-17731800	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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