Variant report

Variant	rs72688850
Chromosome Location	chr1:103671295-103671296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12063499	0.88[EUR][1000 genomes]
rs12065731	0.83[AMR][1000 genomes]
rs12068383	0.84[EUR][1000 genomes]
rs12070974	0.86[EUR][1000 genomes]
rs12092464	0.93[EUR][1000 genomes]
rs12095418	0.84[EUR][1000 genomes]
rs12095853	0.84[EUR][1000 genomes]
rs56659384	0.84[EUR][1000 genomes]
rs60582212	0.93[EUR][1000 genomes]
rs60646698	0.93[EUR][1000 genomes]
rs6577364	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67273779	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67698911	0.84[EUR][1000 genomes]
rs72687249	0.91[EUR][1000 genomes]
rs72687262	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72688823	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72688858	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72690641	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72690651	0.87[AMR][1000 genomes]
rs7555597	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9651150	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv526337	chr1:103636607-103704266	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103660800-103672600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:103671200-103671800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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