Variant report

Variant	rs72640548
Chromosome Location	chr8:49761581-49761582
allele	C/T
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[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16919006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938984	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938994	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938996	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16939026	1.00[EUR][1000 genomes]
rs16939027	1.00[EUR][1000 genomes]
rs72640550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72640551	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640555	1.00[EUR][1000 genomes]
rs72640561	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640562	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640563	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640569	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49758600-49766000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:49758800-49764600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:49758800-49765200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:49759200-49761600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:49759400-49761800	Enhancers	Fetal Stomach	stomach
6	chr8:49759800-49762000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:49760200-49761800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:49760400-49761800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:49760800-49762000	Weak transcription	Brain Germinal Matrix	brain
10	chr8:49761000-49762400	Enhancers	HMEC	breast
11	chr8:49761200-49761600	Enhancers	Fetal Lung	lung
12	chr8:49761200-49762400	Enhancers	Fetal Kidney	kidney
13	chr8:49761200-49764200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:49761200-49764400	Enhancers	NHEK	skin
15	chr8:49761400-49761600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:49761400-49761800	Enhancers	Fetal Muscle Leg	muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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