Variant report

Variant	rs10060892
Chromosome Location	chr5:120043256-120043257
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:120040953..120043952-chr5:120045648..120047608,2	K562	blood:

Variant related genes	Relation type
ENSG00000222609	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10040266	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10040356	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10041438	1.00[AFR][1000 genomes]
rs10042091	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10042936	0.88[AMR][1000 genomes]
rs10042938	0.88[AMR][1000 genomes]
rs10052726	1.00[AFR][1000 genomes]
rs10052980	1.00[AFR][1000 genomes]
rs10054070	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10058697	1.00[AFR][1000 genomes]
rs10059619	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10060342	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10063730	1.00[AFR][1000 genomes]
rs10066878	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10067493	1.00[AFR][1000 genomes]
rs10068955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069230	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069291	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10069660	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10073492	1.00[AFR][1000 genomes]
rs10074366	1.00[AFR][1000 genomes]
rs10074952	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10077351	1.00[AFR][1000 genomes]
rs10077418	1.00[AFR][1000 genomes]
rs10077623	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10077676	1.00[AFR][1000 genomes]
rs10078379	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10078711	0.88[AMR][1000 genomes]
rs10478483	1.00[AFR][1000 genomes]
rs13328230	1.00[AFR][1000 genomes]
rs13355058	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13356254	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13357710	0.92[AMR][1000 genomes]
rs13359644	1.00[AFR][1000 genomes]
rs13359996	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13360650	0.88[AMR][1000 genomes]
rs13362045	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13436012	1.00[AFR][1000 genomes]
rs28404957	1.00[AFR][1000 genomes]
rs28412190	1.00[AFR][1000 genomes]
rs28517751	0.88[AMR][1000 genomes]
rs28657882	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28697043	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28729806	1.00[AFR][1000 genomes]
rs4413562	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73265943	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7356735	0.88[AMR][1000 genomes]
rs9327161	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv830464	chr5:119950090-120106717	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv599603	chr5:119953529-120317035	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv949415	chr5:119957645-120459183	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv830465	chr5:119973839-120151853	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1030613	chr5:119980213-120301205	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1029773	chr5:120018166-120213999	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1016516	chr5:120023417-120132790	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1022693	chr5:120026332-120132790	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120040800-120044200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
2	chr5:120041800-120043400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
3	chr5:120042000-120043400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:120042200-120043800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr5:120042600-120043800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:120042800-120043600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
7	chr5:120043000-120043400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr5:120043000-120043400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
9	chr5:120043000-120043800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:120043200-120043400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr5:120043200-120043400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
12	chr5:120043200-120044000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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