Variant report

Variant	rs12507239
Chromosome Location	chr4:121596109-121596110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55925426	1.00[EUR][1000 genomes]
rs56014814	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56029376	0.81[EUR][1000 genomes]
rs56349949	1.00[EUR][1000 genomes]
rs58568085	0.90[EUR][1000 genomes]
rs60100184	1.00[EUR][1000 genomes]
rs60414940	1.00[EUR][1000 genomes]
rs60660972	1.00[EUR][1000 genomes]
rs72911539	1.00[EUR][1000 genomes]
rs72913588	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72913597	1.00[EUR][1000 genomes]
rs72915508	1.00[EUR][1000 genomes]
rs72919561	1.00[EUR][1000 genomes]
rs72919574	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72919576	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72919578	1.00[EUR][1000 genomes]
rs73845419	1.00[EUR][1000 genomes]
rs73845420	1.00[EUR][1000 genomes]
rs73845428	0.91[EUR][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	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12507239	ABP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121591200-121620600	Weak transcription	Left Ventricle	heart
2	chr4:121594000-121596200	Weak transcription	Brain Substantia Nigra	brain
3	chr4:121595400-121598200	Weak transcription	Fetal Lung	lung
4	chr4:121595400-121602600	Weak transcription	Ovary	ovary
5	chr4:121595800-121596200	ZNF genes & repeats	Aorta	Aorta

Quick Search:

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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