Variant report

Variant	rs2554462
Chromosome Location	chr8:52918054-52918055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2280179	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2433235	0.83[ASN][1000 genomes]
rs2554465	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2677208	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs268924	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs268925	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs268926	0.82[ASN][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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52913200-52918600	Weak transcription	Fetal Thymus	thymus
2	chr8:52913400-52918800	Weak transcription	Thymus	Thymus
3	chr8:52913800-52920400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:52913800-52920600	Weak transcription	Primary T cells from cord blood	blood
5	chr8:52914600-52920000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:52914800-52920400	Weak transcription	GM12878-XiMat	blood
7	chr8:52916800-52920800	Weak transcription	Pancreas	Pancrea
8	chr8:52917800-52921000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:52918000-52918400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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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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