Variant report

Variant	rs1030460
Chromosome Location	chr12:20358213-20358214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10734698	0.89[EUR][1000 genomes]
rs10734699	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770619	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1160229	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1427995	0.81[AMR][1000 genomes]
rs4762934	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4762935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487065	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297897	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7308275	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312491	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs763488	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7970503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977038	1.00[ASN][1000 genomes]
rs7979819	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035141	chr12:20286595-20429040	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv557700	chr12:20346383-20379710	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1030460	AEBP2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20356000-20364600	Weak transcription	Aorta	Aorta
2	chr12:20356400-20365400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:20356600-20364600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:20357800-20358400	Enhancers	Fetal Heart	heart
5	chr12:20358200-20358400	Enhancers	Fetal Intestine Large	intestine
6	chr12:20358200-20358400	Enhancers	Fetal Intestine Small	intestine
7	chr12:20358200-20359600	Enhancers	Colon Smooth Muscle	Colon

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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