Variant report

Variant	rs12621268
Chromosome Location	chr2:37565225-37565226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55912911	1.00[EUR][1000 genomes]
rs57400672	1.00[EUR][1000 genomes]
rs57555618	0.83[AFR][1000 genomes]
rs58186361	1.00[EUR][1000 genomes]
rs58283784	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59635910	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60172229	1.00[EUR][1000 genomes]
rs61519361	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61622947	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72863151	1.00[EUR][1000 genomes]
rs72863156	1.00[EUR][1000 genomes]
rs72863167	1.00[EUR][1000 genomes]
rs72863171	1.00[EUR][1000 genomes]
rs72863172	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72863186	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72863188	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72863189	1.00[EUR][1000 genomes]
rs72863190	0.87[AFR][1000 genomes]
rs72864813	0.90[EUR][1000 genomes]
rs72864827	0.85[AFR][1000 genomes]
rs7592627	0.91[AMR][1000 genomes];0.90[EUR][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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr2:37564400-37565600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:37564400-37565800	Enhancers	Placenta	Placenta
3	chr2:37564800-37565600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:37565000-37565600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr2:37565000-37565800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr2:37565000-37566200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:37565000-37566400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:37565000-37566400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:37565200-37570600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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