Variant report

Variant	rs72764709
Chromosome Location	chr1:227619774-227619775
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	GATA3	chr1:227619594-227619921	T-47D	breast:	n/a	n/a
2	FOSL2	chr1:227619547-227619881	HepG2	liver:	n/a	chr1:227619718-227619729 chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730
3	UBTF	chr1:227619484-227619921	K562	blood:	n/a	n/a
4	FOXA1	chr1:227619613-227619898	T-47D	breast:	n/a	n/a
5	ARID3A	chr1:227619657-227619931	K562	blood:	n/a	n/a
6	MAX	chr1:227619237-227619959	K562	blood:	n/a	n/a
7	CHD1	chr1:227619473-227620095	IMR90	lung:	n/a	n/a
8	MXI1	chr1:227619312-227620059	IMR90	lung:	n/a	n/a
9	MAFK	chr1:227619392-227619938	K562	blood:	n/a	chr1:227619865-227619876 chr1:227619722-227619731 chr1:227619863-227619877
10	TCF12	chr1:227619672-227619883	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr1:227619172-227620044	HCT-116	colon:	n/a	n/a
12	MYC	chr1:227619673-227619901	MCF10A-Er-Src	breast:	n/a	n/a
13	IRF1	chr1:227619607-227619934	K562	blood:	n/a	chr1:227619625-227619637 chr1:227619636-227619647
14	BHLHE40	chr1:227619322-227619902	HepG2	liver:	n/a	n/a
15	MYC	chr1:227619669-227619865	HUVEC	blood vessel:	n/a	n/a
16	JUND	chr1:227619507-227619956	K562	blood:	n/a	chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730 chr1:227619719-227619730
17	ZNF384	chr1:227619557-227619896	K562	blood:	n/a	n/a
18	FOXA2	chr1:227619657-227619906	HepG2	liver:	n/a	n/a
19	ZMIZ1	chr1:227619610-227619951	K562	blood:	n/a	n/a
20	EP300	chr1:227619361-227620131	A549	lung:	n/a	n/a
21	RCOR1	chr1:227619089-227620108	IMR90	lung:	n/a	n/a
22	FOXA2	chr1:227619492-227620071	A549	lung:	n/a	n/a
23	FOS	chr1:227619640-227619912	MCF10A-Er-Src	breast:	n/a	chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730 chr1:227619719-227619730
24	FOS	chr1:227619595-227619912	MCF10A-Er-Src	breast:	n/a	chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730 chr1:227619719-227619730
25	FOXA1	chr1:227619564-227619908	HepG2	liver:	n/a	n/a
26	EP300	chr1:227619377-227620104	A549	lung:	n/a	n/a
27	REST	chr1:227619503-227619982	A549	lung:	n/a	chr1:227619734-227619752
28	CBX3	chr1:227619310-227619905	K562	blood:	n/a	n/a
29	SMC3	chr1:227619710-227619881	HepG2	liver:	n/a	n/a
30	GATA2	chr1:227619512-227619954	HUVEC	blood vessel:	n/a	n/a
31	JUN	chr1:227619115-227620075	K562	blood:	n/a	chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730
32	RCOR1	chr1:227619343-227620201	K562	blood:	n/a	n/a
33	MAFF	chr1:227619528-227619918	K562	blood:	n/a	n/a
34	CEBPB	chr1:227619610-227619824	K562	blood:	n/a	n/a
35	CEBPB	chr1:227619592-227619876	IMR90	lung:	n/a	n/a
36	GABPA	chr1:227619614-227620040	A549	lung:	n/a	n/a
37	E2F4	chr1:227619718-227619980	MCF10A-Er-Src	breast:	n/a	n/a
38	FOXA1	chr1:227619625-227619877	HepG2	liver:	n/a	n/a
39	EP300	chr1:227619483-227619940	K562	blood:	n/a	n/a
40	STAT3	chr1:227619742-227619876	MCF10A-Er-Src	breast:	n/a	n/a
41	TBL1XR1	chr1:227619523-227619959	K562	blood:	n/a	n/a
42	FOSL2	chr1:227619233-227620159	A549	lung:	n/a	chr1:227619718-227619729 chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730
43	FOS	chr1:227619607-227619854	MCF10A-Er-Src	breast:	n/a	chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730 chr1:227619719-227619730
44	POLR2A	chr1:227619364-227620094	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr1:227619219-227620088	HUVEC	blood vessel:	n/a	n/a
46	MAX	chr1:227619358-227619862	HepG2	liver:	n/a	n/a
47	YY1	chr1:227619642-227619900	HCT-116	colon:	n/a	n/a
48	SMC3	chr1:227619652-227619912	K562	blood:	n/a	n/a
49	JUN	chr1:227619499-227620012	HUVEC	blood vessel:	n/a	chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730
50	FOS	chr1:227619374-227619952	HUVEC	blood vessel:	n/a	chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730 chr1:227619719-227619730

No.	Distal block	Cell Line	Cell type
1	chr1:227504042..227507688-chr1:227616722..227620233,4	K562	blood:
2	chr1:227616535..227618369-chr1:227618757..227620375,2	MCF-7	breast:
3	chr1:227505302..227507077-chr1:227617949..227620450,2	MCF-7	breast:
4	chr1:227615748..227618335-chr1:227618739..227621470,2	MCF-7	breast:
5	chr1:227506036..227507932-chr1:227615818..227619997,3	MCF-7	breast:
6	chr1:227612197..227614219-chr1:227619414..227621480,2	MCF-7	breast:

Variant related genes	Relation type
BTF3P9	TF binding region
ENSG00000143776	Chromatin interaction
ENSG00000242757	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10916142	0.84[AMR][1000 genomes]
rs12028062	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12030200	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6426453	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227615200-227621000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:227615400-227623400	Enhancers	Brain Cingulate Gyrus	brain
3	chr1:227615600-227621000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr1:227616000-227622200	Enhancers	Fetal Muscle Leg	muscle
5	chr1:227616200-227619800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:227616200-227620000	Enhancers	Fetal Muscle Trunk	muscle
7	chr1:227616400-227620000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:227616400-227621000	Enhancers	Lung	lung
9	chr1:227616600-227625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:227617400-227620800	Weak transcription	Spleen	Spleen
11	chr1:227617400-227625200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:227617600-227621400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:227617600-227624000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:227617600-227624400	Weak transcription	Fetal Lung	lung
15	chr1:227617600-227625200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:227617600-227625200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:227617600-227631200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:227617800-227625200	Weak transcription	Fetal Kidney	kidney
19	chr1:227617800-227625200	Weak transcription	Psoas Muscle	Psoas
20	chr1:227617800-227625200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:227617800-227625200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:227618000-227624600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:227618000-227625200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:227618200-227620600	Enhancers	HUVEC	blood vessel
25	chr1:227618600-227625200	Weak transcription	Left Ventricle	heart
26	chr1:227619000-227619800	Enhancers	NH-A	brain
27	chr1:227619000-227620400	Enhancers	NHDF-Ad	bronchial
28	chr1:227619000-227620800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:227619200-227619800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:227619200-227619800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:227619200-227619800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:227619200-227619800	Enhancers	Colon Smooth Muscle	Colon
33	chr1:227619200-227619800	Enhancers	NHLF	lung
34	chr1:227619200-227620000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:227619200-227620000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:227619200-227620000	Enhancers	Adipose Nuclei	Adipose
37	chr1:227619200-227620000	Enhancers	Fetal Brain Male	brain
38	chr1:227619200-227620200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:227619200-227620200	Enhancers	Fetal Stomach	stomach
40	chr1:227619200-227620400	Enhancers	Stomach Mucosa	stomach
41	chr1:227619200-227620600	Weak transcription	Brain Substantia Nigra	brain
42	chr1:227619400-227619800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:227619400-227619800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:227619400-227619800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:227619400-227619800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:227619400-227619800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:227619400-227619800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr1:227619400-227619800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:227619400-227619800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr1:227619400-227619800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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