Variant report

Variant	rs73569127
Chromosome Location	chr20:1519280-1519281
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11905059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906372	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906465	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906544	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11907473	1.00[AMR][1000 genomes]
rs11907712	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11907751	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11907783	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11907998	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11908171	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11908182	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12106160	1.00[AMR][1000 genomes]
rs56754323	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57346343	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57420503	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58097778	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58116184	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58308789	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58367945	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58517500	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59506879	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60385016	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60811618	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61002307	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61215418	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61511268	1.00[AMR][1000 genomes]
rs61733947	1.00[AMR][1000 genomes]
rs73569103	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569105	1.00[AMR][1000 genomes]
rs73569106	1.00[AMR][1000 genomes]
rs73569112	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569121	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569122	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569123	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569150	1.00[AMR][1000 genomes]
rs73569154	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569167	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569168	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569169	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569172	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569173	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569175	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569178	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569180	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569183	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569192	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569194	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569196	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569198	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570807	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570817	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570821	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570823	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570825	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570828	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570829	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570830	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570832	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570834	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570841	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570844	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv833893	chr20:1414615-1527779	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2758509	chr20:1476781-1679256	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv2758777	chr20:1476781-1679256	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv428374	chr20:1476781-1679256	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv912596	chr20:1486637-1877150	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv1057036	chr20:1493425-1869281	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv912597	chr20:1500506-1877150	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv510779	chr20:1509330-1613962	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr20:1514800-1519400	Enhancers	Primary hematopoietic stem cells	blood
2	chr20:1514800-1519400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr20:1516000-1519600	Enhancers	Primary B cells from peripheral blood	blood
4	chr20:1517400-1519400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr20:1517400-1519400	Enhancers	Placenta	Placenta
6	chr20:1518400-1520400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr20:1518600-1519800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr20:1518600-1519800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr20:1518600-1519800	Enhancers	HMEC	breast
10	chr20:1518800-1519600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr20:1518800-1519800	Enhancers	Primary B cells from cord blood	blood
12	chr20:1519000-1519400	Enhancers	GM12878-XiMat	blood
13	chr20:1519000-1519600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr20:1519000-1520400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr20:1519000-1520400	Enhancers	NHEK	skin

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