Variant report

Variant	rs72888263
Chromosome Location	chr2:47729351-47729352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs17036586	1.00[AMR][1000 genomes]
rs17036616	1.00[AMR][1000 genomes]
rs17039235	0.84[AFR][1000 genomes]
rs17039236	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17217849	1.00[AMR][1000 genomes]
rs17217961	1.00[AMR][1000 genomes]
rs17218648	1.00[AMR][1000 genomes]
rs17224122	1.00[AMR][1000 genomes]
rs17224724	1.00[AMR][1000 genomes]
rs17224738	1.00[AMR][1000 genomes]
rs17224815	1.00[AMR][1000 genomes]
rs1800151	1.00[AMR][1000 genomes]
rs55815447	1.00[AMR][1000 genomes]
rs55905016	1.00[AMR][1000 genomes]
rs56076616	1.00[AMR][1000 genomes]
rs56958162	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56983268	1.00[AMR][1000 genomes]
rs57972954	1.00[AMR][1000 genomes]
rs58012164	1.00[AMR][1000 genomes]
rs58080795	1.00[AMR][1000 genomes]
rs58930161	1.00[AMR][1000 genomes]
rs59974084	1.00[AMR][1000 genomes]
rs60121180	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60512750	1.00[AMR][1000 genomes]
rs61282650	1.00[AMR][1000 genomes]
rs61635665	1.00[AMR][1000 genomes]
rs72882725	1.00[AMR][1000 genomes]
rs72882752	1.00[AMR][1000 genomes]
rs72882765	1.00[AMR][1000 genomes]
rs72882783	1.00[AMR][1000 genomes]
rs72882786	1.00[AMR][1000 genomes]
rs72882796	1.00[AMR][1000 genomes]
rs72882802	1.00[AMR][1000 genomes]
rs72884625	1.00[AMR][1000 genomes]
rs72884632	1.00[AMR][1000 genomes]
rs72884676	1.00[AMR][1000 genomes]
rs72886304	1.00[AMR][1000 genomes]
rs72886358	1.00[AMR][1000 genomes]
rs72888237	1.00[AMR][1000 genomes]
rs72888238	1.00[AMR][1000 genomes]
rs73927801	1.00[AMR][1000 genomes]
rs73927802	0.81[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47727200-47729600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:47727800-47731800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:47727800-47732200	Weak transcription	Primary T cells from cord blood	blood
4	chr2:47728200-47729800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:47728400-47729400	Enhancers	HMEC	breast
6	chr2:47728400-47729600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:47728400-47729600	Enhancers	NHEK	skin
8	chr2:47728400-47729800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:47728400-47730200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:47728400-47730200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:47728600-47729400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:47728600-47729400	Enhancers	Osteobl	bone
13	chr2:47728600-47729600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:47729000-47729800	Enhancers	GM12878-XiMat	blood
15	chr2:47729000-47730400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:47729200-47729400	Enhancers	NH-A	brain
17	chr2:47729200-47730200	Weak transcription	NHDF-Ad	bronchial
18	chr2:47729200-47730400	Enhancers	HUVEC	blood vessel

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