Variant report

Variant	rs12997926
Chromosome Location	chr2:177533880-177533881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10497448	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12991707	0.97[EUR][1000 genomes]
rs17345806	0.97[EUR][1000 genomes]
rs35231950	0.97[EUR][1000 genomes]
rs55898660	0.86[EUR][1000 genomes]
rs66809138	0.97[EUR][1000 genomes]
rs6730174	0.83[EUR][1000 genomes]
rs72930241	0.86[EUR][1000 genomes]
rs72930256	0.90[EUR][1000 genomes]
rs72930260	0.86[EUR][1000 genomes]
rs72932120	0.86[EUR][1000 genomes]
rs72932122	0.86[EUR][1000 genomes]
rs72932127	0.86[EUR][1000 genomes]
rs72932129	0.86[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	nsv834464	chr2:177375743-177534410	Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177516200-177536400	Weak transcription	Ovary	ovary
2	chr2:177533200-177534200	Weak transcription	Aorta	Aorta
3	chr2:177533400-177534400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:177533400-177536000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:177533600-177537000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:177533800-177534600	Flanking Active TSS	GM12878-XiMat	blood
7	chr2:177533800-177534600	Enhancers	HUVEC	blood vessel
8	chr2:177533800-177534800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:177533800-177534800	Enhancers	Colon Smooth Muscle	Colon
10	chr2:177533800-177534800	Enhancers	Fetal Kidney	kidney
11	chr2:177533800-177534800	Enhancers	Rectal Smooth Muscle	rectum

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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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