Variant report

Variant	rs7969722
Chromosome Location	chr12:59320456-59320457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59312484..59315022-chr12:59317333..59320993,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257443	Chromatin interaction
ENSG00000139263	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10877188	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10877198	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10877200	0.83[EUR][1000 genomes]
rs11172823	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11172824	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11172825	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11172827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11172831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11172833	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11172837	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11172839	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11172840	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11172846	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11172857	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11172858	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11172860	0.88[EUR][1000 genomes]
rs11172861	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11172862	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11172866	0.83[EUR][1000 genomes]
rs11172867	0.83[EUR][1000 genomes]
rs11172868	0.85[EUR][1000 genomes]
rs12368752	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12370522	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12423502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12426212	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12426969	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17121828	0.83[EUR][1000 genomes]
rs55888651	0.83[EUR][1000 genomes]
rs58692617	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60522760	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60984323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61754220	0.92[EUR][1000 genomes]
rs61919461	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61919462	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61919464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61919465	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61919466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61919469	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61919471	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61919513	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61919518	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61919519	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61919520	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61919521	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61919523	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61919524	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61919525	0.88[EUR][1000 genomes]
rs61919531	0.87[EUR][1000 genomes]
rs61919532	0.87[EUR][1000 genomes]
rs6581224	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7136193	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7138401	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7294684	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7297094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301299	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7302365	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7303773	0.88[EUR][1000 genomes]
rs7309872	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7963207	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7968111	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7970054	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7980136	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7980483	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9645802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[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	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59315400-59320800	Enhancers	Fetal Intestine Small	intestine
2	chr12:59315400-59320800	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:59317200-59324800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:59318400-59320800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:59319000-59320800	Active TSS	Duodenum Mucosa	Duodenum
6	chr12:59319200-59324400	Weak transcription	Osteobl	bone
7	chr12:59319400-59320800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:59319800-59320600	Enhancers	HUVEC	blood vessel
9	chr12:59319800-59325000	Weak transcription	Pancreas	Pancrea
10	chr12:59320000-59321000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:59320000-59326600	Weak transcription	Stomach Mucosa	stomach
12	chr12:59320200-59322000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:59320200-59328400	Weak transcription	Fetal Lung	lung
14	chr12:59320400-59320600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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