Variant report

Variant	rs60030344
Chromosome Location	chr1:56328468-56328469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10493188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17113005	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55849921	1.00[AMR][1000 genomes]
rs59439199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60368363	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61508861	1.00[AMR][1000 genomes]
rs6668334	1.00[AMR][1000 genomes]
rs6690389	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072548	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072549	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072584	1.00[AMR][1000 genomes]
rs74074581	1.00[AFR][1000 genomes];1.00[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	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56322400-56333400	Weak transcription	Psoas Muscle	Psoas
2	chr1:56326000-56331800	Weak transcription	Placenta	Placenta
3	chr1:56326000-56342000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:56326600-56331200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:56326600-56333200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:56327000-56333600	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:56327200-56332200	Weak transcription	Fetal Intestine Large	intestine
8	chr1:56327600-56329400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:56328400-56331800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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