Variant report

Variant	rs5762681
Chromosome Location	chr22:28946188-28946189
allele	C/G
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:31)

rs_ID	r²[population]
rs16986630	1.00[JPT][hapmap]
rs16986646	1.00[JPT][hapmap]
rs17882867	1.00[JPT][hapmap]
rs1805129	1.00[JPT][hapmap]
rs2013784	0.92[ASN][1000 genomes]
rs2144922	0.92[ASN][1000 genomes]
rs2180459	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2346866	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2881496	0.92[ASN][1000 genomes]
rs5752756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5762696	1.00[CHB][hapmap]
rs5762706	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6005807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6005809	0.80[ASN][1000 genomes]
rs695289	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs695294	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs695305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs695344	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs695346	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs695365	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs695442	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs695529	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs695555	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs695571	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs695575	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs695580	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs695609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs695626	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs695627	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs695656	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	esv3413328	chr22:28946051-28946433	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28933600-28953800	Weak transcription	HSMMtube	muscle
2	chr22:28937400-28950800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:28937600-28946200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr22:28937600-28946400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:28944600-28956000	Weak transcription	NHDF-Ad	bronchial
6	chr22:28944800-28952800	Weak transcription	Fetal Lung	lung
7	chr22:28945600-28946200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr22:28945600-28946600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr22:28945800-28946400	Enhancers	A549	lung
10	chr22:28945800-28946600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr22:28945800-28946600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr22:28946000-28946600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr22:28946000-28946600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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