Variant report

Variant	rs72951830
Chromosome Location	chr1:86886098-86886099
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11161796	1.00[AMR][1000 genomes]
rs11161797	1.00[AMR][1000 genomes]
rs11801454	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803763	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804733	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11810074	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12079988	1.00[AMR][1000 genomes]
rs12096446	1.00[AMR][1000 genomes]
rs34372019	1.00[AMR][1000 genomes]
rs56841249	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949810	1.00[AMR][1000 genomes]
rs72949857	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949858	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949874	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949875	0.91[AFR][1000 genomes]
rs72949879	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949884	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949902	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951825	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951832	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951845	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86882200-86894800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:86885000-86889200	Enhancers	NHEK	skin
3	chr1:86885200-86886600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:86885200-86887200	Enhancers	Hela-S3	cervix
5	chr1:86885200-86889400	Enhancers	HMEC	breast
6	chr1:86885200-86889600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:86885400-86886800	Weak transcription	NHDF-Ad	bronchial
8	chr1:86885400-86887200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:86885400-86887400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:86885400-86887800	Weak transcription	Esophagus	oesophagus
11	chr1:86886000-86886200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:86886000-86886200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:86886000-86886800	Weak transcription	Fetal Heart	heart
14	chr1:86886000-86887400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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