Variant report

Variant	rs4599247
Chromosome Location	chr3:34001190-34001191
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1109973	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11924534	0.90[ASN][1000 genomes]
rs12486443	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13075028	1.00[ASN][1000 genomes]
rs1881938	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4045199	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4234229	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4270459	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4293663	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4355233	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4678628	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4678631	0.82[AMR][1000 genomes]
rs6763221	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6766292	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6776036	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9819006	0.84[AMR][1000 genomes]
rs9823050	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9843038	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9870373	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522881	chr3:33736126-34241686	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4599247	GPD1L	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:33982600-34002400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:33998400-34008400	Weak transcription	K562	blood
3	chr3:34000800-34001400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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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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