Variant report

Variant	rs62254720
Chromosome Location	chr3:67346489-67346490
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	JUND	chr3:67346378-67347226	HepG2	liver:	n/a	n/a
2	ATF2	chr3:67346347-67346843	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOXA2	chr3:67346376-67346864	HepG2	liver:	n/a	n/a
4	JUND	chr3:67346448-67346805	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr3:67346419-67347228	HepG2	liver:	n/a	n/a
6	RAD21	chr3:67346396-67346800	HepG2	liver:	n/a	n/a
7	HNF4G	chr3:67346383-67346861	HepG2	liver:	n/a	chr3:67346624-67346639 chr3:67346624-67346639 chr3:67346829-67346844 chr3:67346624-67346639 chr3:67346633-67346645
8	MAFK	chr3:67346408-67346880	HepG2	liver:	n/a	n/a
9	RAD21	chr3:67346470-67346738	HepG2	liver:	n/a	n/a
10	CEBPB	chr3:67346463-67346780	HepG2	liver:	n/a	n/a
11	TEAD4	chr3:67346219-67347390	HepG2	liver:	n/a	n/a
12	EP300	chr3:67346272-67347095	ECC-1	luminal epithelium:	n/a	chr3:67346606-67346614
13	CEBPB	chr3:67346407-67346856	ECC-1	luminal epithelium:	n/a	n/a
14	TEAD4	chr3:67346467-67346824	HepG2	liver:	n/a	n/a
15	NR3C1	chr3:67346471-67346773	ECC-1	luminal epithelium:	n/a	n/a
16	HNF4A	chr3:67346388-67346857	HepG2	liver:	n/a	chr3:67346624-67346639 chr3:67346624-67346639 chr3:67346829-67346844 chr3:67346624-67346639 chr3:67346633-67346645
17	MAFF	chr3:67346376-67346775	HepG2	liver:	n/a	n/a
18	JUN	chr3:67346420-67346853	HepG2	liver:	n/a	chr3:67346605-67346618
19	MYBL2	chr3:67346330-67347242	HepG2	liver:	n/a	n/a
20	FOXM1	chr3:67346297-67347040	ECC-1	luminal epithelium:	n/a	n/a
21	HDAC2	chr3:67346392-67346849	HepG2	liver:	n/a	chr3:67346631-67346639
22	TEAD4	chr3:67346370-67346957	ECC-1	luminal epithelium:	n/a	n/a
23	EP300	chr3:67345958-67347259	HepG2	liver:	n/a	chr3:67346606-67346614
24	TCF12	chr3:67346346-67347028	ECC-1	luminal epithelium:	n/a	n/a
25	MAFK	chr3:67346411-67346795	HepG2	liver:	n/a	n/a
26	ELF1	chr3:67346469-67346813	HepG2	liver:	n/a	n/a
27	SMC3	chr3:67346431-67346814	HepG2	liver:	n/a	n/a
28	FOXA1	chr3:67346278-67347316	HepG2	liver:	n/a	n/a
29	RCOR1	chr3:67346465-67347100	HepG2	liver:	n/a	n/a
30	EP300	chr3:67346237-67347417	HepG2	liver:	n/a	chr3:67346606-67346614
31	HNF4G	chr3:67346399-67347352	HepG2	liver:	n/a	chr3:67346624-67346639 chr3:67346624-67346639 chr3:67346829-67346844 chr3:67347093-67347106 chr3:67347093-67347106 chr3:67347093-67347106 chr3:67347092-67347107 chr3:67347093-67347105 chr3:67346624-67346639 chr3:67347093-67347105 chr3:67346633-67346645
32	HNF4A	chr3:67346383-67346857	HepG2	liver:	n/a	chr3:67346624-67346639 chr3:67346624-67346639 chr3:67346829-67346844 chr3:67346624-67346639 chr3:67346633-67346645
33	ATF2	chr3:67346417-67346858	H1-hESC	embryonic stem cell:	n/a	n/a
34	SP1	chr3:67346326-67346914	HepG2	liver:	n/a	n/a
35	FOSL2	chr3:67346398-67346841	HepG2	liver:	n/a	n/a
36	ATF3	chr3:67346477-67346696	HepG2	liver:	n/a	n/a
37	HNF4A	chr3:67346430-67347268	HepG2	liver:	n/a	chr3:67346624-67346639 chr3:67346624-67346639 chr3:67346829-67346844 chr3:67347093-67347106 chr3:67347091-67347106 chr3:67347093-67347106 chr3:67347093-67347106 chr3:67347093-67347105 chr3:67346624-67346639 chr3:67347093-67347105 chr3:67346633-67346645
38	RAD21	chr3:67346388-67346808	HepG2	liver:	n/a	n/a
39	NR2F2	chr3:67346269-67346980	HepG2	liver:	n/a	n/a
40	MAX	chr3:67346440-67347203	HepG2	liver:	n/a	n/a
41	FOSL2	chr3:67346405-67346836	HepG2	liver:	n/a	n/a
42	HDAC2	chr3:67346362-67346897	HepG2	liver:	n/a	chr3:67346876-67346890 chr3:67346631-67346639 chr3:67346872-67346886
43	MXI1	chr3:67346379-67346805	HepG2	liver:	n/a	n/a
44	REST	chr3:67346389-67346841	HepG2	liver:	n/a	n/a
45	RXRA	chr3:67346470-67346803	HepG2	liver:	n/a	n/a
46	EP300	chr3:67346294-67346900	HepG2	liver:	n/a	chr3:67346606-67346614
47	NFIC	chr3:67346436-67346915	ECC-1	luminal epithelium:	n/a	n/a
48	CEBPB	chr3:67346440-67346797	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYBL2	chr3:67346182-67347369	HepG2	liver:	n/a	n/a
50	NR2F2	chr3:67346313-67347338	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000241884	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1027197	0.81[ASN][1000 genomes]
rs1027198	0.81[ASN][1000 genomes]
rs1387871	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1490267	0.87[ASN][1000 genomes]
rs1490273	0.81[ASN][1000 genomes]
rs17046165	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17046214	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17046220	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1994611	0.87[ASN][1000 genomes]
rs2171932	0.87[ASN][1000 genomes]
rs2363710	0.81[ASN][1000 genomes]
rs57388155	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59118239	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59809779	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60400002	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62254721	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62254722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62254725	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62254728	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62254730	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62254743	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62254744	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62254745	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62254746	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62254747	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62254749	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6548443	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6787783	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67340800-67347200	Enhancers	HepG2	liver
2	chr3:67343000-67352200	Weak transcription	Aorta	Aorta
3	chr3:67346000-67346800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr3:67346000-67346800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:67346000-67347200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:67346000-67347200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:67346000-67347200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:67346000-67347400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:67346000-67350200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:67346200-67346800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:67346200-67346800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:67346200-67347000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:67346400-67346800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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