Variant report

Variant	rs10044930
Chromosome Location	chr5:54190228-54190229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1965716	0.87[ASN][1000 genomes]
rs1988528	0.89[ASN][1000 genomes]
rs1991498	0.86[ASN][1000 genomes]
rs2017318	0.87[ASN][1000 genomes]
rs2017540	0.87[ASN][1000 genomes]
rs2407758	0.92[ASN][1000 genomes]
rs2897758	0.92[ASN][1000 genomes]
rs4865883	0.87[ASN][1000 genomes]
rs734097	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7708368	0.82[ASN][1000 genomes]
rs7734613	0.81[ASN][1000 genomes]
rs976645	0.88[ASN][1000 genomes]
rs981978	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv598179	chr5:54156269-54192823	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54186200-54196600	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:54186400-54191200	Weak transcription	Fetal Kidney	kidney
3	chr5:54186600-54190800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:54186600-54190800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:54186600-54191000	Weak transcription	HSMM	muscle

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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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