Variant report

Variant	rs72914503
Chromosome Location	chr3:67346396-67346397
allele	G/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	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	RAD21	chr3:67346396-67346800	HepG2	liver:	n/a	n/a
5	HNF4G	chr3:67346383-67346861	HepG2	liver:	n/a	chr3:67346624-67346639 chr3:67346624-67346639 chr3:67346829-67346844 chr3:67346624-67346639 chr3:67346633-67346645
6	TEAD4	chr3:67346219-67347390	HepG2	liver:	n/a	n/a
7	EP300	chr3:67346272-67347095	ECC-1	luminal epithelium:	n/a	chr3:67346606-67346614
8	HNF4A	chr3:67346388-67346857	HepG2	liver:	n/a	chr3:67346624-67346639 chr3:67346624-67346639 chr3:67346829-67346844 chr3:67346624-67346639 chr3:67346633-67346645
9	MAFF	chr3:67346376-67346775	HepG2	liver:	n/a	n/a
10	MYBL2	chr3:67346330-67347242	HepG2	liver:	n/a	n/a
11	FOXM1	chr3:67346297-67347040	ECC-1	luminal epithelium:	n/a	n/a
12	HDAC2	chr3:67346392-67346849	HepG2	liver:	n/a	chr3:67346631-67346639
13	TEAD4	chr3:67346370-67346957	ECC-1	luminal epithelium:	n/a	n/a
14	EP300	chr3:67345958-67347259	HepG2	liver:	n/a	chr3:67346606-67346614
15	TCF12	chr3:67346346-67347028	ECC-1	luminal epithelium:	n/a	n/a
16	FOXA1	chr3:67346278-67347316	HepG2	liver:	n/a	n/a
17	EP300	chr3:67346237-67347417	HepG2	liver:	n/a	chr3:67346606-67346614
18	HNF4A	chr3:67346383-67346857	HepG2	liver:	n/a	chr3:67346624-67346639 chr3:67346624-67346639 chr3:67346829-67346844 chr3:67346624-67346639 chr3:67346633-67346645
19	SP1	chr3:67346326-67346914	HepG2	liver:	n/a	n/a
20	RAD21	chr3:67346388-67346808	HepG2	liver:	n/a	n/a
21	NR2F2	chr3:67346269-67346980	HepG2	liver:	n/a	n/a
22	HDAC2	chr3:67346362-67346897	HepG2	liver:	n/a	chr3:67346876-67346890 chr3:67346631-67346639 chr3:67346872-67346886
23	MXI1	chr3:67346379-67346805	HepG2	liver:	n/a	n/a
24	REST	chr3:67346389-67346841	HepG2	liver:	n/a	n/a
25	EP300	chr3:67346294-67346900	HepG2	liver:	n/a	chr3:67346606-67346614
26	MYBL2	chr3:67346182-67347369	HepG2	liver:	n/a	n/a
27	NR2F2	chr3:67346313-67347338	HepG2	liver:	n/a	n/a
28	NFIC	chr3:67346248-67347235	HepG2	liver:	n/a	n/a
29	ARID3A	chr3:67346299-67347398	HepG2	liver:	n/a	n/a
30	MAX	chr3:67346380-67346965	ECC-1	luminal epithelium:	n/a	n/a
31	FOXA1	chr3:67346272-67347383	HepG2	liver:	n/a	n/a
32	NFIC	chr3:67346367-67346844	HepG2	liver:	n/a	n/a
33	CEBPB	chr3:67346373-67346895	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000241884	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12490292	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17805868	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57179316	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66731212	0.81[ASN][1000 genomes]
rs72914506	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs880985	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs902323	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs985344	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	chr3:67343800-67346400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:67346000-67346800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr3:67346000-67346800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:67346000-67347200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:67346000-67347200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:67346000-67347200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:67346000-67347400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:67346000-67350200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:67346200-67346800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:67346200-67346800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:67346200-67347000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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