Variant report

Variant	rs1388988
Chromosome Location	chr4:125411237-125411238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11946186	0.80[EUR][1000 genomes]
rs12651542	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1509525	0.80[EUR][1000 genomes]
rs1567395	0.80[EUR][1000 genomes]
rs1567396	0.80[EUR][1000 genomes]
rs28548600	0.80[EUR][1000 genomes]
rs28733585	0.80[EUR][1000 genomes]
rs3106055	0.82[EUR][1000 genomes]
rs4833988	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55698707	0.80[EUR][1000 genomes]
rs58568869	0.80[EUR][1000 genomes]
rs59780240	0.80[EUR][1000 genomes]
rs6534441	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6836758	0.80[EUR][1000 genomes]
rs6846869	0.80[EUR][1000 genomes]
rs6856045	0.80[EUR][1000 genomes]
rs6856467	0.80[EUR][1000 genomes]
rs9993116	0.80[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	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv879880	chr4:125174817-125494547	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2760890	chr4:125273456-125466931	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv879881	chr4:125280852-125448288	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125404800-125412600	Weak transcription	Fetal Stomach	stomach
2	chr4:125410200-125412600	Weak transcription	Fetal Lung	lung
3	chr4:125410400-125411800	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:125411200-125412000	Enhancers	Fetal Heart	heart

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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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