Variant report

Variant	rs1993547
Chromosome Location	chr4:69775402-69775403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr4:69775265-69775529	HepG2	liver:	n/a	chr4:69775418-69775433
2	MAFK	chr4:69775281-69775553	HepG2	liver:	n/a	chr4:69775418-69775433
3	MAFF	chr4:69775256-69775441	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:69770351..69773308-chr4:69775332..69780038,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249985	TF binding region
ENSG00000272626	TF binding region
ENSG00000272626	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10000598	0.83[EUR][1000 genomes]
rs10000974	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10001065	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10006282	0.83[EUR][1000 genomes]
rs10010699	0.83[EUR][1000 genomes]
rs10013724	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10024664	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10032748	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1020767	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10518057	0.83[EUR][1000 genomes]
rs10903220	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10903221	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10903224	0.83[EUR][1000 genomes]
rs11249512	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11249513	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11249515	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1159714	0.84[EUR][1000 genomes]
rs1159715	0.84[EUR][1000 genomes]
rs11736796	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11940320	0.87[EUR][1000 genomes]
rs11946857	0.86[EUR][1000 genomes]
rs12500933	0.85[EUR][1000 genomes]
rs12509066	0.86[EUR][1000 genomes]
rs12510036	0.87[EUR][1000 genomes]
rs13104293	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13106664	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13113544	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13128286	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13128843	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13132528	0.83[EUR][1000 genomes]
rs13148179	0.85[EUR][1000 genomes]
rs13148603	0.83[EUR][1000 genomes]
rs1379813	0.83[EUR][1000 genomes]
rs1379816	0.83[EUR][1000 genomes]
rs1458236	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1458237	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1458242	0.85[EUR][1000 genomes]
rs1458243	0.82[EUR][1000 genomes]
rs1458245	0.83[EUR][1000 genomes]
rs1458246	0.83[EUR][1000 genomes]
rs1598904	0.83[EUR][1000 genomes]
rs17146967	0.85[EUR][1000 genomes]
rs1841037	0.85[EUR][1000 genomes]
rs1902925	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1902926	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1902927	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1902928	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1962953	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1968764	0.83[EUR][1000 genomes]
rs1989329	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2009312	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2017125	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2018150	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2125305	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2168840	0.86[EUR][1000 genomes]
rs2168841	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2331561	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2331562	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2331577	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3088249	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3749511	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3749513	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3828504	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4412056	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4518317	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4694358	0.88[EUR][1000 genomes]
rs4694389	0.85[EUR][1000 genomes]
rs4694448	0.84[EUR][1000 genomes]
rs4694449	0.84[EUR][1000 genomes]
rs55647928	0.86[EUR][1000 genomes]
rs55795005	0.86[EUR][1000 genomes]
rs56371633	0.85[EUR][1000 genomes]
rs6600857	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6842605	0.85[EUR][1000 genomes]
rs6843537	0.85[EUR][1000 genomes]
rs6843550	0.86[EUR][1000 genomes]
rs6847539	0.91[EUR][1000 genomes]
rs6849125	0.87[EUR][1000 genomes]
rs6858791	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7441753	0.83[EUR][1000 genomes]
rs7666446	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7674475	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7692753	0.82[EUR][1000 genomes]
rs9329037	0.82[EUR][1000 genomes]
rs969338	0.84[EUR][1000 genomes]
rs994229	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9996467	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9999996	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	esv3398036	chr4:69700493-69841391	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv436447	chr4:69743339-69851390	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv4372	chr4:69764499-69810115	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69773400-69779200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:69774000-69776800	Active TSS	Fetal Intestine Small	intestine
3	chr4:69774000-69777600	Active TSS	Fetal Intestine Large	intestine
4	chr4:69775400-69778000	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links