Variant report

Variant	rs56958162
Chromosome Location	chr2:47726275-47726276
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47723653..47725283-chr2:47725374..47727598,2	K562	blood:
2	chr2:47721161..47722792-chr2:47725179..47726873,2	K562	blood:

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

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

rs_ID	r²[population]
rs17036586	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036616	1.00[AMR][1000 genomes]
rs17036622	0.85[AFR][1000 genomes]
rs17039236	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17217849	1.00[AMR][1000 genomes]
rs17217961	1.00[AMR][1000 genomes]
rs17218648	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17224122	1.00[AMR][1000 genomes]
rs17224724	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17224738	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17224815	0.90[AFR][1000 genomes];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]
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	0.95[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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888238	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888263	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927801	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927802	0.95[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	chr2:47702800-47727000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47714600-47727200	Weak transcription	Primary T cells from cord blood	blood
3	chr2:47725000-47726600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:47725000-47726600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:47725000-47728600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:47725400-47727800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr2:47726200-47727800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:47726200-47727800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:47726200-47727800	ZNF genes & repeats	Dnd41	blood

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