Variant report

Variant	rs17146961
Chromosome Location	chr4:69749788-69749789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr4:69749319-69750182	HepG2	liver:	n/a	n/a
2	EP300	chr4:69749449-69750091	HepG2	liver:	n/a	n/a
3	MAFK	chr4:69749771-69750026	HepG2	liver:	n/a	n/a
4	FOXA1	chr4:69749522-69750061	HepG2	liver:	n/a	n/a
5	SMC3	chr4:69749726-69749971	HepG2	liver:	n/a	n/a
6	CEBPB	chr4:69749684-69749947	HepG2	liver:	n/a	n/a
7	SP1	chr4:69749478-69750037	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:69749563-69749939	HepG2	liver:	n/a	n/a
9	HNF4G	chr4:69749569-69750002	HepG2	liver:	n/a	n/a
10	HDAC2	chr4:69749625-69749994	HepG2	liver:	n/a	n/a
11	NFIC	chr4:69749572-69750017	HepG2	liver:	n/a	n/a
12	FOXA1	chr4:69749464-69750049	HepG2	liver:	n/a	n/a
13	RXRA	chr4:69749530-69750089	HepG2	liver:	n/a	n/a
14	RAD21	chr4:69749693-69749978	HepG2	liver:	n/a	n/a
15	FOXA1	chr4:69749563-69750099	HepG2	liver:	n/a	n/a
16	FOXA1	chr4:69749565-69750014	HepG2	liver:	n/a	n/a
17	EP300	chr4:69749566-69749885	HepG2	liver:	n/a	n/a
18	TCF7L2	chr4:69749673-69750009	HepG2	liver:	n/a	n/a
19	ARID3A	chr4:69749583-69750031	HepG2	liver:	n/a	n/a
20	MAFK	chr4:69749689-69750031	HepG2	liver:	n/a	n/a
21	TBP	chr4:69749558-69749941	HepG2	liver:	n/a	n/a
22	MAFF	chr4:69749699-69750009	HepG2	liver:	n/a	n/a
23	FOXA2	chr4:69749561-69750064	HepG2	liver:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2A3-6	chr4:69749603-69750158	NONHSAT096745

No data

Variant related genes	Relation type
ENSG00000251529	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11940320	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12500933	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12510036	0.84[EUR][1000 genomes]
rs17146967	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1841037	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694358	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4694389	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56371633	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6842605	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6849125	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv879377	chr4:69663003-69771935	Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv879378	chr4:69673775-69771935	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	nsv967756	chr4:69726911-69750058	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69747000-69750600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:69749000-69749800	Enhancers	Fetal Intestine Large	intestine
3	chr4:69749000-69750000	Enhancers	Duodenum Mucosa	Duodenum
4	chr4:69749000-69750200	Enhancers	Fetal Intestine Small	intestine
5	chr4:69749400-69750000	Enhancers	Liver	Liver
6	chr4:69749600-69749800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
7	chr4:69749600-69750000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:69749600-69750000	Enhancers	Pancreas	Pancrea
9	chr4:69749600-69750000	Enhancers	Stomach Mucosa	stomach
10	chr4:69749600-69750000	Flanking Active TSS	HepG2	liver

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