Variant report

Variant	rs11233914
Chromosome Location	chr11:83842477-83842478
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10501554	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs10501556	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.87[EUR][1000 genomes]
rs10898221	1.00[CEU][hapmap]
rs11233903	0.81[GIH][hapmap]
rs11233909	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11233910	0.82[CEU][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11233916	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11233921	1.00[CEU][hapmap];0.83[YRI][hapmap];0.90[EUR][1000 genomes]
rs11233925	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11233926	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs11233928	0.84[EUR][1000 genomes]
rs11233929	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs11233934	0.85[CEU][hapmap]
rs11233938	0.84[EUR][1000 genomes]
rs12360734	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs12365077	0.92[EUR][1000 genomes]
rs17563401	0.82[CEU][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes]
rs17563429	0.82[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[EUR][1000 genomes]
rs1945829	0.82[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58773272	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59144272	0.92[EUR][1000 genomes]
rs60034832	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60761480	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7106126	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs7125922	0.90[EUR][1000 genomes]
rs73515766	0.95[EUR][1000 genomes]
rs73515768	0.95[EUR][1000 genomes]
rs7927940	1.00[CEU][hapmap];0.91[YRI][hapmap];0.90[EUR][1000 genomes]
rs7946613	0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039924	chr11:83662904-83993497	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv541102	chr11:83662904-83993497	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv898029	chr11:83717887-83939591	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1051279	chr11:83818647-83872815	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv555609	chr11:83822181-83842498	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
6	esv2760422	chr11:83828680-83845579	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	nsv516717	chr11:83831259-83842498	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
8	nsv555610	chr11:83831922-83842498	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11233914	MMP20	trans	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83840400-83845000	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:83840800-83847800	Weak transcription	Brain Anterior Caudate	brain
3	chr11:83841400-83845200	Weak transcription	Fetal Heart	heart
4	chr11:83841800-83842600	Enhancers	Brain Substantia Nigra	brain
5	chr11:83842000-83842800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:83842400-83847600	Weak transcription	Brain Angular Gyrus	brain
7	chr11:83842400-83847800	Weak transcription	Brain Inferior Temporal Lobe	brain

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