Variant report

Variant	rs72640555
Chromosome Location	chr8:49788710-49788711
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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16938984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16938989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16938994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16938996	1.00[EUR][1000 genomes]
rs16939026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16939027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72640548	1.00[EUR][1000 genomes]
rs72640550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72640551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72640561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72640562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72640563	1.00[AMR][1000 genomes];1.00[EUR][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49783400-49791200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:49784000-49789000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:49784200-49790800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:49784600-49789400	Enhancers	Hela-S3	cervix
5	chr8:49785400-49790600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:49785600-49788800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:49785800-49791200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:49786400-49791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:49786800-49788800	Weak transcription	HMEC	breast
10	chr8:49786800-49790800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:49787600-49793200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:49787800-49788800	Enhancers	Fetal Brain Male	brain
13	chr8:49787800-49789800	Enhancers	Fetal Lung	lung
14	chr8:49788200-49790200	Weak transcription	Fetal Brain Female	brain
15	chr8:49788600-49789000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:49788600-49789400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:49788600-49789400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:49788600-49789400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:49788600-49789400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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