Variant report

Variant	rs72943980
Chromosome Location	chr1:84867741-84867742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1503638	1.00[EUR][1000 genomes]
rs1604725	1.00[EUR][1000 genomes]
rs316642	1.00[EUR][1000 genomes]
rs6668418	1.00[EUR][1000 genomes]
rs72946331	1.00[EUR][1000 genomes]
rs7542876	1.00[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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84863000-84871200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:84866600-84868000	Enhancers	HUVEC	blood vessel
3	chr1:84867200-84868000	Enhancers	NHLF	lung
4	chr1:84867200-84868600	Enhancers	HMEC	breast
5	chr1:84867200-84868600	Enhancers	NHEK	skin
6	chr1:84867200-84869000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:84867400-84869400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:84867600-84868000	Enhancers	NHDF-Ad	bronchial
9	chr1:84867600-84868400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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