Variant report

Variant	rs60520044
Chromosome Location	chr3:53238942-53238943
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12487179	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12495066	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2358622	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61395826	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61584438	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62254355	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[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	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53229000-53270000	Weak transcription	Right Atrium	heart
2	chr3:53230200-53241400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:53231200-53239400	Weak transcription	Spleen	Spleen
4	chr3:53231200-53242000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:53231200-53256800	Weak transcription	HMEC	breast
6	chr3:53233600-53239800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr3:53235200-53241400	Weak transcription	GM12878-XiMat	blood
8	chr3:53237000-53243800	Weak transcription	A549	lung
9	chr3:53237200-53241400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr3:53238400-53239000	Strong transcription	Adipose Nuclei	Adipose
11	chr3:53238800-53242000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr3:53238800-53255600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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