Variant report

Variant	rs357711
Chromosome Location	chr2:180667840-180667841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10930887	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1352111	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1383413	0.90[EUR][1000 genomes]
rs165373	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs165374	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs165379	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs165380	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs165381	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs187745	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs194674	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs259831	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs259833	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2630539	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28520865	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs357712	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752731	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7557122	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7585592	0.96[ASN][1000 genomes]
rs7597666	0.88[AMR][1000 genomes];0.94[EUR][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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180655600-180669600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:180667600-180668600	Weak transcription	Fetal Brain Male	brain

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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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