Variant report

Variant	rs4757568
Chromosome Location	chr11:17715891-17715892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10741731	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10766418	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10766419	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10766421	0.91[EUR][1000 genomes]
rs10832837	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10832841	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10832844	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11024364	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11024367	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11024368	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11024375	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11605964	0.91[EUR][1000 genomes]
rs12785437	0.95[ASN][1000 genomes]
rs2526551	0.83[EUR][1000 genomes]
rs28683112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878806	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];0.92[YRI][hapmap];0.95[ASN][1000 genomes]
rs2878807	0.95[ASN][1000 genomes]
rs3858499	0.95[ASN][1000 genomes]
rs3858501	0.95[ASN][1000 genomes]
rs3858502	0.95[ASN][1000 genomes]
rs3901370	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs3935159	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4081578	0.87[ASW][hapmap];0.92[CEU][hapmap];0.87[GIH][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs4141260	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4141261	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4141262	0.88[EUR][1000 genomes]
rs4756905	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4756907	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4757565	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4757567	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4757569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7395942	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7483014	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9633896	0.85[EUR][1000 genomes];0.83[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4757568	DKFZp686O24166	cis	parietal	SCAN
rs4757568	SAA2	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17712800-17716000	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr11:17713200-17718000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr11:17713200-17721800	Enhancers	Psoas Muscle	Psoas
4	chr11:17713400-17717200	Enhancers	HSMMtube	muscle
5	chr11:17714400-17717000	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr11:17715200-17722000	Enhancers	HSMM	muscle

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