Variant report

Variant	rs2127723
Chromosome Location	chr3:43666464-43666465
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17320869	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17321267	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17408953	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17409162	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17473616	0.89[EUR][1000 genomes]
rs17474028	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55659203	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56389778	0.91[EUR][1000 genomes]
rs6762850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6772433	0.81[AFR][1000 genomes]
rs740837	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7617071	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9831055	0.97[EUR][1000 genomes]
rs9831161	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9856765	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9872385	0.90[AMR][1000 genomes];0.94[EUR][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	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr3:43664200-43688400	Weak transcription	Aorta	Aorta
2	chr3:43664400-43667600	Enhancers	Placenta	Placenta
3	chr3:43664400-43668600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:43664400-43668600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:43664400-43668600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:43664400-43668800	Weak transcription	Primary T cells from cord blood	blood
7	chr3:43664400-43668800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:43664400-43670800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:43664400-43673600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:43664600-43666600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:43664600-43668600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:43664600-43673600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:43666000-43666600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:43666400-43666800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr3:43666400-43666800	Flanking Active TSS	HepG2	liver

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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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