Variant report

Variant	rs4504653
Chromosome Location	chr8:131499304-131499305
allele	A/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:6)

rs_ID	r²[population]
rs35599999	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4316172	0.96[EUR][1000 genomes]
rs4319114	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4404934	0.95[EUR][1000 genomes]
rs4495444	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4629883	0.88[AMR][1000 genomes];1.00[EUR][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131494200-131500400	Enhancers	Placenta	Placenta
2	chr8:131496400-131500000	Enhancers	A549	lung
3	chr8:131496600-131503000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:131496600-131503200	Weak transcription	HMEC	breast
5	chr8:131496600-131503600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:131497000-131501400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:131497200-131503600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:131497600-131503000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:131497800-131499400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:131498000-131503200	Weak transcription	NHEK	skin
11	chr8:131498200-131500800	Enhancers	Fetal Intestine Large	intestine
12	chr8:131498200-131503000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:131498400-131512600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:131498600-131503000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:131499000-131500800	Enhancers	Fetal Intestine Small	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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