Variant report

Variant	rs4888080
Chromosome Location	chr16:80183937-80183938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12051173	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs12325508	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16952080	1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap]
rs16952121	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs4888068	1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap]
rs4888078	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4888079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4889085	1.00[CHB][hapmap]

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	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055982	chr16:80151604-80202923	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 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	chr16:80181000-80185200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr16:80181200-80184600	Weak transcription	NH-A	brain
3	chr16:80181400-80184400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:80181800-80184400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr16:80182000-80184200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:80182000-80184200	Weak transcription	NHDF-Ad	bronchial
7	chr16:80182000-80184400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:80182400-80184200	Weak transcription	HSMMtube	muscle
9	chr16:80182400-80184400	Weak transcription	HSMM	muscle
10	chr16:80183600-80186600	Enhancers	Ovary	ovary
11	chr16:80183800-80186600	Enhancers	Fetal Muscle Leg	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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