Variant report

Variant	rs12468557
Chromosome Location	chr2:211495587-211495588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10176085	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11680040	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11684318	0.88[CEU][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs11685945	0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes]
rs12694205	0.86[ASN][1000 genomes]
rs12694206	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13401425	0.94[CEU][hapmap];0.82[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2371005	0.86[ASN][1000 genomes]
rs2371006	0.86[ASN][1000 genomes]
rs4614865	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6750325	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7568329	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587701	0.86[ASN][1000 genomes]
rs7587791	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7588072	0.80[EUR][1000 genomes]
rs7607205	0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.80[ASN][1000 genomes]
rs7607412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288418	0.88[CEU][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1013658	chr2:211447246-211809945	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536135	chr2:211447246-211809945	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Body mass index in asthmatics	23517042	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12468557	ACADL	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211491000-211498200	Weak transcription	Hela-S3	cervix
2	chr2:211492000-211495600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:211493200-211496200	Weak transcription	Liver	Liver
4	chr2:211493600-211498400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:211494800-211496200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:211495200-211508000	Strong transcription	Duodenum Mucosa	Duodenum
7	chr2:211495400-211496200	Enhancers	Fetal Brain Female	brain
8	chr2:211495400-211496400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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

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