Variant report

Variant	rs12649493
Chromosome Location	chr4:69774162-69774163
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	FOXA1	chr4:69773637-69774332	HepG2	liver:	n/a	n/a
2	GATA3	chr4:69773520-69774321	A549	lung:	n/a	n/a
3	CEBPB	chr4:69773475-69774184	A549	lung:	n/a	chr4:69773655-69773666
4	SP1	chr4:69773511-69774576	A549	lung:	n/a	n/a
5	TCF12	chr4:69773482-69774743	A549	lung:	n/a	chr4:69774734-69774742
6	EP300	chr4:69773504-69774386	A549	lung:	n/a	chr4:69773803-69773813
7	FOXA2	chr4:69773715-69774224	A549	lung:	n/a	n/a
8	SP1	chr4:69773455-69774475	A549	lung:	n/a	n/a
9	FOXA2	chr4:69773564-69774394	A549	lung:	n/a	n/a
10	EP300	chr4:69773575-69774552	A549	lung:	n/a	chr4:69773803-69773813

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

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11931829	1.00[ASN][1000 genomes]
rs11935894	0.91[ASN][1000 genomes]
rs12649844	1.00[EUR][1000 genomes]
rs12651636	0.91[ASN][1000 genomes]
rs17146778	0.83[ASN][1000 genomes]
rs17146785	0.83[ASN][1000 genomes]
rs17146907	0.91[ASN][1000 genomes]
rs1913316	0.91[ASN][1000 genomes]
rs2137646	0.83[ASN][1000 genomes]
rs35502751	0.83[ASN][1000 genomes]
rs3792628	0.91[ASN][1000 genomes]
rs4307028	1.00[EUR][1000 genomes]
rs57176367	0.83[ASN][1000 genomes]
rs57251507	0.91[ASN][1000 genomes]
rs57290492	1.00[ASN][1000 genomes]
rs57633916	0.83[ASN][1000 genomes]
rs57889376	0.91[ASN][1000 genomes]
rs57970648	0.83[ASN][1000 genomes]
rs58752434	0.83[ASN][1000 genomes]
rs59108315	0.83[ASN][1000 genomes]
rs59166765	0.91[ASN][1000 genomes]
rs59496335	1.00[EUR][1000 genomes]
rs59706854	0.91[ASN][1000 genomes]
rs61301802	0.91[ASN][1000 genomes]
rs61360717	0.91[ASN][1000 genomes]
rs61385958	1.00[EUR][1000 genomes]
rs6833082	0.83[ASN][1000 genomes]
rs72848044	0.83[ASN][1000 genomes]
rs983346	0.83[ASN][1000 genomes]
rs983347	0.83[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	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69772800-69775400	Enhancers	Liver	Liver
2	chr4:69773400-69774200	Weak transcription	Fetal Kidney	kidney
3	chr4:69773400-69779200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:69773600-69774600	Enhancers	HepG2	liver
5	chr4:69773800-69774600	Flanking Active TSS	A549	lung
6	chr4:69774000-69776800	Active TSS	Fetal Intestine Small	intestine
7	chr4:69774000-69777600	Active TSS	Fetal Intestine Large	intestine

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