Variant report

Variant	rs72888268
Chromosome Location	chr2:47732293-47732294
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11901715	1.00[AMR][1000 genomes]
rs57831950	1.00[AMR][1000 genomes]
rs57916992	1.00[AMR][1000 genomes]
rs59927838	1.00[AMR][1000 genomes]
rs60068970	1.00[AMR][1000 genomes]
rs60358586	1.00[AMR][1000 genomes]
rs60887102	1.00[AMR][1000 genomes]
rs61212083	1.00[AMR][1000 genomes]
rs72872806	1.00[AMR][1000 genomes]
rs72872810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72872822	1.00[AFR][1000 genomes]
rs72882770	1.00[AMR][1000 genomes]
rs72884619	1.00[AFR][1000 genomes]
rs72884694	1.00[AMR][1000 genomes]
rs72884701	1.00[AMR][1000 genomes]
rs72886311	1.00[AMR][1000 genomes]
rs72886331	1.00[AMR][1000 genomes]
rs72886333	1.00[AMR][1000 genomes]
rs72886340	1.00[AMR][1000 genomes]
rs72886346	1.00[AMR][1000 genomes]
rs72886357	1.00[AMR][1000 genomes]
rs72886367	1.00[AMR][1000 genomes]
rs72888235	1.00[AMR][1000 genomes]
rs72888241	1.00[AMR][1000 genomes]
rs72888249	1.00[AMR][1000 genomes]
rs72888257	1.00[AMR][1000 genomes]
rs72888260	1.00[AMR][1000 genomes]
rs72888262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888274	1.00[AMR][1000 genomes]
rs72888288	1.00[AMR][1000 genomes]
rs72890160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890162	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr2:47729800-47733800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:47730400-47735600	Weak transcription	HUVEC	blood vessel
3	chr2:47731800-47732600	ZNF genes & repeats	GM12878-XiMat	blood
4	chr2:47731800-47733600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:47732000-47732400	Enhancers	Brain Substantia Nigra	brain
6	chr2:47732000-47732600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:47732200-47732600	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr2:47732200-47733000	Enhancers	Brain Hippocampus Middle	brain
9	chr2:47732200-47733200	Weak transcription	Brain Inferior Temporal Lobe	brain

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