Variant report

Variant	rs72640563
Chromosome Location	chr8:49803618-49803619
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1561657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16938984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16938989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16938994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16938996	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16939026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16939027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72640548	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72640555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72640561	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72640562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72640569	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7464556	0.96[EUR][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	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49800200-49806400	Weak transcription	Fetal Lung	lung
2	chr8:49800800-49803800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:49801600-49803800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:49802000-49803800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:49802000-49804200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:49802000-49804400	Weak transcription	NHLF	lung
7	chr8:49802000-49809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:49802000-49814800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:49803000-49806000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:49803200-49804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:49803200-49805600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:49803200-49805600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:49803400-49804200	Enhancers	Colon Smooth Muscle	Colon
14	chr8:49803400-49804400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:49803600-49804400	Weak transcription	Fetal Brain Male	brain
16	chr8:49803600-49804600	Enhancers	NHDF-Ad	bronchial
17	chr8:49803600-49805400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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

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