Variant report

Variant	rs1165508
Chromosome Location	chr1:56196678-56196679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11206663	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1165490	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1165491	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1165494	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1165495	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1165496	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1165502	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1165509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2767500	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2819484	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs749330	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];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	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
2	nsv546304	chr1:56195659-56240015	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56186400-56207600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:56193000-56200600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:56193000-56206600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:56193800-56200400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:56196400-56197000	Enhancers	Fetal Muscle Leg	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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