Variant report

Variant	rs531377
Chromosome Location	chr1:175786328-175786329
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16849314	1.00[AMR][1000 genomes]
rs16849325	1.00[AMR][1000 genomes]
rs16849347	1.00[AMR][1000 genomes]
rs2994686	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs476146	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs491240	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs508911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs511759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs535108	1.00[AMR][1000 genomes]
rs539235	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs545285	1.00[EUR][1000 genomes]
rs545497	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs548159	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs556934	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7524237	1.00[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	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175785200-175786600	Enhancers	Fetal Muscle Leg	muscle
2	chr1:175786200-175786400	Weak transcription	Fetal Brain Male	brain
3	chr1:175786200-175786600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:175786200-175786600	Enhancers	Hela-S3	cervix

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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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