Variant report

Variant	rs6988717
Chromosome Location	chr8:131490901-131490902
allele	A/G
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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16904275	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16904276	1.00[AMR][1000 genomes]
rs16904277	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16904278	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16904280	1.00[AMR][1000 genomes]
rs16904281	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6984626	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131486600-131493600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:131489200-131491200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:131490000-131494200	Weak transcription	Placenta	Placenta
4	chr8:131490200-131491200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr8:131490200-131495600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:131490400-131491600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:131490400-131491800	Weak transcription	Left Ventricle	heart
8	chr8:131490400-131495200	Weak transcription	NHLF	lung
9	chr8:131490400-131495200	Weak transcription	Osteobl	bone
10	chr8:131490600-131491200	Weak transcription	A549	lung
11	chr8:131490600-131495800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:131490800-131491000	Flanking Active TSS	HUVEC	blood vessel
13	chr8:131490800-131493600	Enhancers	Fetal Intestine Large	intestine

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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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