Variant report

Variant	rs72953722
Chromosome Location	chr2:180457908-180457909
allele	A/G
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:17)

rs_ID	r²[population]
rs1356064	0.82[AMR][1000 genomes]
rs17820230	0.86[AMR][1000 genomes]
rs3106709	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61515342	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72953712	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72953725	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72953754	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72957600	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72957991	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72957994	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72967298	0.93[AMR][1000 genomes]
rs72969212	0.93[AMR][1000 genomes]
rs72969215	0.93[AMR][1000 genomes]
rs72969229	0.93[AMR][1000 genomes]
rs908285	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9750251	0.89[AMR][1000 genomes]
rs984893	0.93[AMR][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	nsv875471	chr2:180448523-180469778	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180435200-180461000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:180456200-180458000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:180456400-180459400	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr2:180456600-180458400	Weak transcription	Psoas Muscle	Psoas
5	chr2:180456600-180459200	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr2:180456600-180459600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:180456800-180460400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:180457000-180458000	Enhancers	Fetal Intestine Small	intestine
9	chr2:180457400-180459400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:180457600-180458000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:180457600-180459200	Weak transcription	Osteobl	bone
12	chr2:180457800-180460600	Weak transcription	Muscle Satellite Cultured Cells	--

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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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