Variant report

Variant	rs73177991
Chromosome Location	chr12:104557740-104557741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104545972..104549947-chr12:104555023..104560302,4	K562	blood:
2	chr12:104553666..104555639-chr12:104557708..104559504,2	K562	blood:
3	chr12:104542011..104544016-chr12:104556575..104558622,2	MCF-7	breast:
4	chr12:104556259..104558196-chr12:104560422..104562244,2	K562	blood:
5	chr12:104531056..104533803-chr12:104557719..104561243,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10507174	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10507175	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11111898	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12422505	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12423684	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12423844	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12424943	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12426862	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12427339	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12579268	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12582033	0.93[ASN][1000 genomes]
rs12582966	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12825521	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17192854	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17805748	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17805766	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35142441	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3812800	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4129598	1.00[AFR][1000 genomes]
rs4131750	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4131752	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4340124	0.88[AMR][1000 genomes]
rs4964226	0.83[ASN][1000 genomes]
rs4964627	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4964632	0.82[AMR][1000 genomes]
rs59079741	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59644448	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61937641	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61937642	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61939183	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61939188	0.84[AMR][1000 genomes]
rs61939190	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61939192	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61939195	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61939196	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61939198	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61939199	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61939200	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61939201	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61939221	0.87[ASN][1000 genomes]
rs6539128	1.00[AFR][1000 genomes]
rs7132418	1.00[AFR][1000 genomes]
rs7299866	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7305872	1.00[AFR][1000 genomes]
rs73177987	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7957725	0.80[AMR][1000 genomes]
rs7978101	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1836100	chr12:104531180-104558476	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
4	esv1836581	chr12:104531180-104558476	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
5	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
6	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104533000-104560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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