Variant report

Variant	rs596041
Chromosome Location	chr5:4938756-4938757
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1452032	1.00[ASN][1000 genomes]
rs1839904	1.00[ASN][1000 genomes]
rs479124	0.89[AFR][1000 genomes]
rs552876	0.93[EUR][1000 genomes]
rs595135	0.98[AFR][1000 genomes]
rs607839	0.89[AFR][1000 genomes]
rs607841	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs623958	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670244	0.89[AFR][1000 genomes]
rs6887832	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036173	0.97[EUR][1000 genomes];1.00[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	nsv1019579	chr5:4557477-4997411	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:4936400-4942000	Weak transcription	Adipose Nuclei	Adipose
2	chr5:4937800-4945600	Enhancers	Fetal Muscle Leg	muscle
3	chr5:4938000-4939000	Weak transcription	Fetal Muscle Trunk	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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