Variant report

Variant	rs72673963
Chromosome Location	chr1:79138482-79138483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10873993	1.00[ASN][1000 genomes]
rs10873994	1.00[ASN][1000 genomes]
rs11162526	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162527	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11162543	1.00[ASN][1000 genomes]
rs12066013	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081949	1.00[ASN][1000 genomes]
rs1628313	1.00[ASN][1000 genomes]
rs17394028	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17394244	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1751524	1.00[ASN][1000 genomes]
rs55802282	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs60222720	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74092102	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7526675	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7536070	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][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	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830315	chr1:79008443-79200591	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv871140	chr1:79095581-79155134	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr1:79117400-79144000	Weak transcription	Esophagus	oesophagus
2	chr1:79117400-79144000	Weak transcription	Spleen	Spleen
3	chr1:79117600-79153000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:79126600-79148000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:79129200-79143800	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:79129400-79138600	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:79129400-79139800	Weak transcription	Primary T cells from cord blood	blood
8	chr1:79129400-79144000	Weak transcription	Ovary	ovary
9	chr1:79129600-79141800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:79130000-79141200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:79130200-79141800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:79130800-79144000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:79138200-79138600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:79138200-79138600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:79138200-79138600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:79138400-79138600	Weak transcription	Lung	lung

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

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