Variant report

Variant	rs16904275
Chromosome Location	chr8:131475701-131475702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16904262	1.00[AMR][1000 genomes]
rs16904271	1.00[AMR][1000 genomes]
rs16904273	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16904276	1.00[AMR][1000 genomes]
rs16904277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16904278	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16904280	1.00[AMR][1000 genomes]
rs16904281	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6984626	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6988717	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131465400-131486200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:131466000-131476800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:131470400-131475800	Weak transcription	Brain Germinal Matrix	brain
4	chr8:131475000-131477200	Enhancers	Fetal Brain Male	brain
5	chr8:131475200-131477800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:131475200-131478000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:131475600-131476000	Enhancers	Fetal Muscle Leg	muscle
8	chr8:131475600-131476000	Enhancers	GM12878-XiMat	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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