Variant report

Variant	rs73100460
Chromosome Location	chr1:221636124-221636125
allele	A/G
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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61136835	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs716938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100439	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100445	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100447	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100455	0.95[AFR][1000 genomes]
rs73110035	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110038	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110054	0.95[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221632200-221636200	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr1:221633200-221636200	Weak transcription	Fetal Lung	lung
3	chr1:221635000-221636200	Enhancers	NHEK	skin
4	chr1:221635000-221636400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:221635200-221636200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:221635200-221636200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:221635200-221636200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:221635200-221636400	Enhancers	HMEC	breast
9	chr1:221635400-221636200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:221635400-221636200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:221635400-221636400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:221635600-221636200	Enhancers	HSMM	muscle
13	chr1:221635600-221636400	Enhancers	Osteobl	bone
14	chr1:221635800-221636200	Enhancers	Colon Smooth Muscle	Colon
15	chr1:221636000-221636800	Weak transcription	Psoas Muscle	Psoas

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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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