Variant report

Variant	rs72943906
Chromosome Location	chr2:112956696-112956697
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11883619	1.00[AMR][1000 genomes]
rs11889423	1.00[AMR][1000 genomes]
rs11895680	1.00[AMR][1000 genomes]
rs11900735	1.00[AMR][1000 genomes]
rs58131726	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60036885	1.00[AMR][1000 genomes]
rs60055516	1.00[AMR][1000 genomes]
rs60851761	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61229236	1.00[AMR][1000 genomes]
rs61292232	1.00[AMR][1000 genomes]
rs6542034	1.00[AMR][1000 genomes]
rs72943918	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943935	1.00[AMR][1000 genomes]
rs72943954	1.00[AMR][1000 genomes]
rs72943955	1.00[AMR][1000 genomes]
rs72943965	1.00[AMR][1000 genomes]
rs72943974	1.00[AMR][1000 genomes]
rs908515	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv874866	chr2:112906599-112991098	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv582703	chr2:112920219-113100014	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv874867	chr2:112930064-113038409	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv1805614	chr2:112949713-113048705	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112914600-112972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:112945200-112970600	Weak transcription	Fetal Stomach	stomach
3	chr2:112952800-112960200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:112953200-112960400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:112953800-112960200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:112953800-112960400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:112953800-112960400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:112953800-112960800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:112953800-112961600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:112955600-112957400	Enhancers	HUVEC	blood vessel
11	chr2:112955600-112958600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:112956200-112956800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:112956200-112957000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:112956200-112957000	Enhancers	NHDF-Ad	bronchial
15	chr2:112956600-112956800	Enhancers	Primary T cells from cord blood	blood

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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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