Variant report

Variant	rs1431593
Chromosome Location	chr8:64330793-64330794
allele	C/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:7)

rs_ID	r²[population]
rs10957286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17211077	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17211441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17282840	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs59223476	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61747580	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73262736	0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890967	chr8:64107847-64454446	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64322000-64337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:64330000-64330800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr8:64330000-64331200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:64330000-64333800	Enhancers	HSMMtube	muscle
5	chr8:64330200-64331000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:64330400-64331200	Enhancers	Psoas Muscle	Psoas
7	chr8:64330400-64331600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:64330600-64332600	Enhancers	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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