Variant report

Variant	rs7248781
Chromosome Location	chr19:53728160-53728161
allele	C/T
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	POLR2A	chr19:53727858-53728255	K562	blood:	n/a	n/a
2	TAF1	chr19:53727917-53728177	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:53727891-53728274	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:53727874-53728233	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr19:53727904-53728180	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:53727926-53728166	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
NDUFV2P1	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10404048	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10413453	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10417666	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12981894	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2865241	0.81[ASN][1000 genomes]
rs2914373	0.96[ASN][1000 genomes]
rs2914374	0.96[ASN][1000 genomes]
rs2914379	0.96[ASN][1000 genomes]
rs2914381	0.96[ASN][1000 genomes]
rs2914382	0.96[ASN][1000 genomes]
rs2965221	0.96[ASN][1000 genomes]
rs2965223	0.96[ASN][1000 genomes]
rs2965224	0.96[ASN][1000 genomes]
rs2965225	0.96[ASN][1000 genomes]
rs2965226	0.96[ASN][1000 genomes]
rs2965227	0.96[ASN][1000 genomes]
rs2965230	0.96[ASN][1000 genomes]
rs2965231	0.96[ASN][1000 genomes]
rs2965232	0.96[ASN][1000 genomes]
rs2965233	0.96[ASN][1000 genomes]
rs2965234	0.96[ASN][1000 genomes]
rs2965235	0.96[ASN][1000 genomes]
rs2965239	0.96[ASN][1000 genomes]
rs2965241	0.95[ASN][1000 genomes]
rs3097251	0.96[ASN][1000 genomes]
rs3111318	0.94[ASN][1000 genomes]
rs3111320	0.96[ASN][1000 genomes]
rs4239497	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4801972	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4803068	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4803070	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4803077	0.93[ASN][1000 genomes]
rs6509736	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7247982	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7248561	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7248812	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7248883	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7249931	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7253646	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257238	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8104393	0.96[ASN][1000 genomes]
rs8104750	0.96[ASN][1000 genomes]
rs8105607	0.94[ASN][1000 genomes]
rs8109793	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9788	0.86[AFR][1000 genomes];0.84[ASN][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	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
7	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	esv2830362	chr19:53681132-53933147	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53727000-53731800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:53728000-53729400	ZNF genes & repeats	Fetal Brain Female	brain

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