Variant report

Variant	rs2199572
Chromosome Location	chr4:54547406-54547407
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1351055	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1351056	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1477879	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2199573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2199574	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs28605511	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34593241	0.94[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4864815	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2199572	FIP1L1	cis	cerebellum	SCAN
rs2199572	NUDT2	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54543200-54547800	Weak transcription	NHDF-Ad	bronchial
2	chr4:54543200-54550400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:54543400-54547600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:54543400-54548000	Weak transcription	Osteobl	bone
5	chr4:54543600-54547800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:54543600-54548000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:54545800-54548400	Weak transcription	Fetal Stomach	stomach

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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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