Variant report

Variant	rs73100445
Chromosome Location	chr1:221620893-221620894
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57553315	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61136835	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs716938	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100439	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100455	0.93[AFR][1000 genomes]
rs73100460	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110035	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110038	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110054	0.93[AFR][1000 genomes];1.00[AMR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221614800-221621200	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:221615600-221635000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:221618000-221621200	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:221618000-221623000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:221618200-221622400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:221620800-221621000	Enhancers	Fetal Lung	lung

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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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