Variant report

Variant	rs12523084
Chromosome Location	chr5:92545556-92545557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12513458	0.80[EUR][1000 genomes]
rs12513551	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12522681	0.81[EUR][1000 genomes]
rs12522702	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17082917	0.82[AFR][1000 genomes]
rs17083019	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4312865	0.80[EUR][1000 genomes]
rs4336351	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4339337	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4401560	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4613686	0.83[ASN][1000 genomes]
rs58191018	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59399491	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66552510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66614167	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66856683	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67395049	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67565700	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67895058	1.00[AFR][1000 genomes]
rs72656686	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72784442	0.81[AMR][1000 genomes]
rs72784444	0.80[AMR][1000 genomes]
rs72784446	0.80[AMR][1000 genomes]
rs9716433	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029175	chr5:92436038-92548473	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv830400	chr5:92515026-92738896	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830401	chr5:92518294-92703611	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv508370	chr5:92539782-92575241	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12523084	ANKRD32	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92543400-92545800	Enhancers	Fetal Lung	lung
2	chr5:92544000-92545800	Enhancers	Ovary	ovary
3	chr5:92544200-92545600	Enhancers	Fetal Stomach	stomach
4	chr5:92544400-92545600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:92544400-92545800	Enhancers	Fetal Muscle Leg	muscle
6	chr5:92544600-92545600	Enhancers	Placenta	Placenta
7	chr5:92544600-92545800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:92544800-92545600	Enhancers	Spleen	Spleen
9	chr5:92545200-92545600	Enhancers	Fetal Brain Male	brain
10	chr5:92545400-92545800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:92545400-92545800	Enhancers	Brain Anterior Caudate	brain

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