Variant report

Variant	rs4757570
Chromosome Location	chr11:17722192-17722193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:17721790-17722291	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr11:17721862-17722217	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000255335	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10766420	0.84[EUR][1000 genomes]
rs10766421	0.88[ASN][1000 genomes]
rs10766423	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832844	0.88[ASN][1000 genomes]
rs10832845	0.87[EUR][1000 genomes]
rs11605964	0.88[ASN][1000 genomes]
rs12785437	0.86[EUR][1000 genomes]
rs12785942	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2336846	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2336847	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2336848	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2878806	0.90[CEU][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs2878807	0.86[EUR][1000 genomes]
rs3858499	0.86[EUR][1000 genomes]
rs3858501	0.86[EUR][1000 genomes]
rs3858502	0.86[EUR][1000 genomes]
rs3858506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858507	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858508	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3901226	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap]
rs3901370	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs3911833	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap]
rs4081578	1.00[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.88[ASN][1000 genomes]
rs4403789	0.83[ASN][1000 genomes]
rs4756910	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756914	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4757574	0.94[ASW][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4757575	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6416178	0.81[EUR][1000 genomes]
rs6486390	0.81[EUR][1000 genomes]
rs6486393	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7101870	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7106809	0.85[EUR][1000 genomes]
rs7109072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap]
rs7123420	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1044126	chr11:17557715-17730646	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv540953	chr11:17557715-17730646	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	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
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4757570	SNORA21	trans	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17719000-17724400	Enhancers	Fetal Muscle Leg	muscle
2	chr11:17721000-17722200	Weak transcription	Fetal Lung	lung
3	chr11:17721200-17723200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr11:17721200-17723600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr11:17721800-17722800	Weak transcription	Placenta	Placenta
6	chr11:17721800-17722800	Weak transcription	HSMMtube	muscle
7	chr11:17721800-17729000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:17721800-17729400	Weak transcription	Psoas Muscle	Psoas
9	chr11:17722000-17722400	Weak transcription	Muscle Satellite Cultured Cells	--

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